GOLGA3
golgin A3
Summary
The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]
Known Variants130 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12282 | 12:133,345,809 | C/T | 3 prime UTR variant | — |
| rs200447509 | 12:133,349,749 | C/T | — | uncertain significance |
| rs557621368 | 12:133,349,753 | G/C | — | uncertain significance |
| rs370553580 | 12:133,349,765 | C/A | — | uncertain significance |
| rs374060454 | 12:133,349,770 | G/A | — | likely benign |
| rs1192063451 | 12:133,349,806 | G/A | — | uncertain significance |
| rs771429316 | 12:133,349,825 | C/T | — | uncertain significance |
| rs760366618 | 12:133,349,828 | G/A | — | uncertain significance |
| rs201715887 | 12:133,349,833 | G/A | — | uncertain significance |
| rs138882508 | 12:133,350,768 | G/A | — | likely benign |
| rs142000244 | 12:133,350,792 | C/T | — | uncertain significance |
| rs148152813 | 12:133,350,799 | C/T | — | likely benign |
| rs748898480 | 12:133,350,827 | G/A | — | uncertain significance |
| rs766370196 | 12:133,350,863 | G/A | — | uncertain significance |
| rs757167491 | 12:133,350,882 | T/C | — | uncertain significance |
| rs200127252 | 12:133,351,741 | C/T | — | uncertain significance |
| rs1172517325 | 12:133,351,788 | T/C | — | uncertain significance |
| rs146521364 | 12:133,353,250 | C/A | — | uncertain significance |
| rs201885321 | 12:133,353,341 | A/G | — | uncertain significance |
| rs2045324285 | 12:133,354,285 | A/T | — | uncertain significance |
| rs575401085 | 12:133,354,290 | G/C | — | likely benign |
| rs768541583 | 12:133,354,315 | T/G | — | uncertain significance |
| rs781462767 | 12:133,354,362 | A/T | — | uncertain significance |
| rs1323126648 | 12:133,354,369 | G/C | — | uncertain significance |
| rs150754220 | 12:133,354,379 | T/C | — | uncertain significance |
| rs200042844 | 12:133,357,464 | G/A | — | uncertain significance |
| rs199772443 | 12:133,358,920 | C/A | — | uncertain significance |
| rs2542667468 | 12:133,358,958 | G/A | — | uncertain significance |
| rs373673699 | 12:133,358,962 | C/T | — | uncertain significance |
| rs146750069 | 12:133,358,974 | C/A | — | uncertain significance |
| rs746270836 | 12:133,359,008 | T/A | — | uncertain significance |
| rs2542669389 | 12:133,359,037 | C/G | — | uncertain significance |
| rs368490263 | 12:133,360,808 | G/A | — | uncertain significance |
| rs181642584 | 12:133,360,871 | G/A | — | likely benign |
| rs1009321 | 12:133,361,224 | A/G | intron variant | — |
| rs74531549 | 12:133,362,170 | A/G | — | — |
| rs149248952 | 12:133,362,993 | C/G | — | uncertain significance |
| rs567702653 | 12:133,363,004 | G/A | — | uncertain significance |
| rs538526329 | 12:133,363,041 | C/T | — | uncertain significance |
| rs773742555 | 12:133,363,047 | T/C | — | uncertain significance |
| rs757057558 | 12:133,363,085 | G/A | — | uncertain significance |
| rs558367126 | 12:133,363,087 | G/T | — | uncertain significance |
| rs148429683 | 12:133,363,117 | C/T | — | likely benign |
| rs780546415 | 12:133,363,283 | G/C | — | uncertain significance |
| rs759417382 | 12:133,363,304 | C/T | — | uncertain significance |
| rs751063534 | 12:133,363,321 | G/A | — | likely benign |
| rs145969238 | 12:133,363,323 | C/T | — | likely benign |
| rs202198935 | 12:133,363,342 | G/A | — | uncertain significance |
| rs200604051 | 12:133,365,650 | G/A | — | likely benign |
| rs139186312 | 12:133,365,653 | G/A | — | uncertain significance |
| rs754768588 | 12:133,365,677 | G/T | — | uncertain significance |
| rs372473097 | 12:133,365,716 | C/T | — | uncertain significance |
| rs147896866 | 12:133,365,741 | G/A | — | uncertain significance |
| rs80194721 | 12:133,365,751 | G/A | — | likely benign |
| rs138141071 | 12:133,365,755 | A/G | — | conflicting classifications of pathogenicity |
| rs536461115 | 12:133,365,852 | C/T | — | uncertain significance |
| rs773832414 | 12:133,365,854 | C/T | — | uncertain significance |
| rs1199808370 | 12:133,365,855 | G/A | — | uncertain significance |
| rs368311216 | 12:133,365,864 | C/A | — | uncertain significance |
| rs59033260 | 12:133,369,589 | G/T | — | — |
| rs61951355 | 12:133,372,449 | T/C | — | uncertain significance |
| rs755289303 | 12:133,372,490 | G/A | — | uncertain significance |
| rs780011648 | 12:133,372,545 | C/T | — | likely benign |
| rs761075442 | 12:133,372,568 | G/A | — | likely benign |
| rs543210415 | 12:133,372,610 | T/A | — | uncertain significance |
| rs559909922 | 12:133,372,611 | C/A | — | uncertain significance |
| rs777077060 | 12:133,372,668 | A/T | — | uncertain significance |
| rs530763752 | 12:133,372,683 | C/T | — | uncertain significance |
| rs201422246 | 12:133,372,686 | C/T | — | uncertain significance |
| rs754822013 | 12:133,372,703 | C/T | — | uncertain significance |
| rs776580126 | 12:133,372,717 | C/G | — | uncertain significance |
| rs2542896893 | 12:133,373,150 | G/A | — | uncertain significance |
| rs559973337 | 12:133,373,231 | A/G | — | uncertain significance |
| rs1485034785 | 12:133,373,282 | T/A | — | uncertain significance |
| rs141963739 | 12:133,374,864 | C/A | intron variant | — |
| rs1593306351 | 12:133,374,984 | G/C | — | uncertain significance |
| rs746808078 | 12:133,374,990 | G/A | — | uncertain significance |
| rs768043775 | 12:133,375,042 | C/A | — | uncertain significance |
| rs1165345281 | 12:133,375,059 | C/T | — | uncertain significance |
| rs111696067 | 12:133,376,540 | T/C | — | — |
| rs372829947 | 12:133,378,387 | C/T | — | uncertain significance |
| rs145557212 | 12:133,378,426 | T/C | — | likely benign |
| rs149188843 | 12:133,378,447 | G/A | — | uncertain significance |
| rs145501010 | 12:133,378,465 | G/A | — | benign |
| rs766111499 | 12:133,378,489 | G/A | — | uncertain significance |
| rs777262504 | 12:133,378,550 | C/T | — | uncertain significance |
| rs764133358 | 12:133,381,319 | A/C | — | uncertain significance |
| rs779457963 | 12:133,381,374 | C/T | — | uncertain significance |
| rs1322101079 | 12:133,381,389 | C/T | — | uncertain significance |
| rs761871420 | 12:133,381,402 | C/T | — | likely benign |
| rs1949310115 | 12:133,381,404 | C/T | — | uncertain significance |
| rs755389194 | 12:133,381,431 | T/G | — | uncertain significance |
| rs972812887 | 12:133,381,451 | G/T | — | uncertain significance |
| rs773068949 | 12:133,381,550 | T/C | — | uncertain significance |
| rs149503883 | 12:133,381,570 | G/A | — | benign |
| rs200701898 | 12:133,384,504 | C/T | — | uncertain significance |
| rs372192050 | 12:133,384,538 | G/C | — | uncertain significance |
| rs147445027 | 12:133,384,546 | G/A | — | uncertain significance |
| rs757737771 | 12:133,384,547 | C/T | — | uncertain significance |
| rs139987438 | 12:133,384,553 | C/T | — | uncertain significance |
Showing 100 of 130 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.