GBF1
golgi brefeldin A resistant guanine nucleotide exchange factor 1
Summary
This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
Known Variants110 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3758549 | 10:104,004,195 | G/A | upstream gene variant | — |
| rs74501283 | 10:104,013,955 | T/C | intron variant | — |
| rs10748818 | 10:104,015,279 | A/G | intron variant | — |
| rs777280189 | 10:104,018,768 | C/T | — | uncertain significance |
| rs756781161 | 10:104,018,778 | C/G | — | uncertain significance |
| rs2987002 | 10:104,020,233 | C/T | — | — |
| rs2479548 | 10:104,057,688 | G/C | — | — |
| rs192735598 | 10:104,061,218 | C/T | intron variant | — |
| rs72845660 | 10:104,071,973 | C/T | — | — |
| rs551625977 | 10:104,073,034 | G/A | — | — |
| rs117779480 | 10:104,080,583 | C/T | intron variant | — |
| rs72845663 | 10:104,081,349 | C/T | intron variant | — |
| rs17780834 | 10:104,091,096 | A/T | intron variant | — |
| rs750164321 | 10:104,103,862 | G/T | — | uncertain significance |
| rs79356410 | 10:104,107,191 | C/T | regulatory region variant | — |
| rs1277879136 | 10:104,111,031 | C/T | — | uncertain significance |
| rs116123526 | 10:104,112,208 | T/C | — | benign |
| rs376175528 | 10:104,112,247 | G/C | — | uncertain significance |
| rs1467300528 | 10:104,112,253 | A/G | — | uncertain significance |
| rs139353076 | 10:104,117,840 | G/T | — | uncertain significance |
| rs762445249 | 10:104,117,869 | G/A | — | uncertain significance |
| rs201550961 | 10:104,117,914 | A/G | — | uncertain significance |
| rs1324449144 | 10:104,117,920 | C/T | — | uncertain significance |
| rs2543880768 | 10:104,118,299 | C/T | — | uncertain significance |
| rs867006242 | 10:104,118,365 | C/T | — | uncertain significance |
| rs2059426762 | 10:104,118,433 | G/T | — | uncertain significance |
| rs2059426863 | 10:104,118,434 | C/A | — | uncertain significance |
| rs751773741 | 10:104,118,466 | C/T | — | uncertain significance |
| rs756704424 | 10:104,118,481 | C/T | — | uncertain significance |
| rs76633616 | 10:104,118,634 | T/C | intron variant | — |
| rs756332359 | 10:104,119,091 | A/T | — | uncertain significance |
| rs201352338 | 10:104,119,959 | A/G | — | uncertain significance |
| rs773164723 | 10:104,120,091 | T/G | — | uncertain significance |
| rs11191269 | 10:104,120,522 | C/T | — | — |
| rs143113721 | 10:104,120,795 | G/A | — | uncertain significance |
| rs773998573 | 10:104,121,541 | G/C | — | uncertain significance |
| rs2059619380 | 10:104,121,604 | A/C | — | uncertain significance |
| rs1010217845 | 10:104,122,304 | G/C | — | uncertain significance |
| rs576060189 | 10:104,122,319 | C/G | — | uncertain significance |
| rs369179789 | 10:104,122,350 | C/G | — | uncertain significance |
| rs544496280 | 10:104,122,392 | T/C | — | uncertain significance |
| rs1444832841 | 10:104,122,411 | A/T | — | uncertain significance |
| rs1214490807 | 10:104,122,412 | G/T | — | uncertain significance |
| rs373473790 | 10:104,123,050 | G/A | — | uncertain significance |
| rs754421310 | 10:104,123,060 | A/G | — | uncertain significance |
| rs755698017 | 10:104,123,091 | G/A | — | uncertain significance |
| rs1365372786 | 10:104,123,476 | A/T | — | uncertain significance |
| rs12354486 | 10:104,124,055 | C/G | intron variant | — |
| rs11191270 | 10:104,124,605 | C/A | — | — |
| rs559879280 | 10:104,125,220 | A/G | — | uncertain significance |
| rs1430772882 | 10:104,125,251 | C/T | — | uncertain significance |
| rs1289480368 | 10:104,125,272 | G/A | — | uncertain significance |
| rs372320027 | 10:104,125,323 | G/A | — | uncertain significance |
| rs147857323 | 10:104,126,188 | T/C | — | benign |
| rs2544121498 | 10:104,126,250 | C/A | — | uncertain significance |
| rs143973197 | 10:104,126,256 | G/A | — | likely benign |
| rs756705596 | 10:104,128,055 | G/A | — | uncertain significance |
| rs868777845 | 10:104,128,081 | C/T | — | uncertain significance |
| rs1275942850 | 10:104,128,151 | C/T | — | uncertain significance |
| rs147884416 | 10:104,128,503 | G/A | — | uncertain significance |
| rs2060050669 | 10:104,128,564 | G/A | — | pathogenic |
| rs1476762556 | 10:104,129,050 | G/A | — | uncertain significance |
| rs376621882 | 10:104,129,067 | C/T | — | uncertain significance |
| rs374309391 | 10:104,129,685 | C/T | — | uncertain significance |
| rs150255203 | 10:104,129,716 | A/G | — | conflicting classifications of pathogenicity |
| rs762603335 | 10:104,130,141 | G/A | — | uncertain significance |
| rs1299997613 | 10:104,130,142 | C/T | — | pathogenic |
| rs200564979 | 10:104,130,190 | C/T | — | uncertain significance |
| rs2544236163 | 10:104,130,228 | G/A | — | uncertain significance |
| rs772064854 | 10:104,130,229 | A/C | — | uncertain significance |
| rs2060161763 | 10:104,130,485 | G/A | — | pathogenic |
| rs758532032 | 10:104,130,502 | A/T | — | uncertain significance |
| rs2544247139 | 10:104,130,517 | G/A | — | uncertain significance |
| rs199813163 | 10:104,130,561 | G/A | — | uncertain significance |
| rs760213274 | 10:104,130,585 | C/T | — | uncertain significance |
| rs750471826 | 10:104,135,132 | G/A | — | likely benign |
| rs781432534 | 10:104,136,140 | T/C | — | uncertain significance |
| rs149227083 | 10:104,136,456 | C/T | — | uncertain significance |
| rs747516364 | 10:104,136,547 | T/A | — | uncertain significance |
| rs1189950900 | 10:104,136,710 | A/G | — | uncertain significance |
| rs199931440 | 10:104,136,712 | C/T | — | uncertain significance |
| rs79933482 | 10:104,136,729 | A/G | — | benign |
| rs1006550959 | 10:104,136,735 | C/A | — | uncertain significance |
| rs1462360035 | 10:104,136,787 | C/T | — | likely pathogenic |
| rs2060541274 | 10:104,136,788 | G/A | — | pathogenic |
| rs757352828 | 10:104,136,818 | G/A | — | uncertain significance |
| rs373502588 | 10:104,136,853 | G/A | — | uncertain significance |
| rs75319510 | 10:104,136,873 | G/A | — | benign |
| rs138373886 | 10:104,136,897 | C/T | — | uncertain significance |
| rs779904047 | 10:104,139,153 | G/A | — | uncertain significance |
| rs771336251 | 10:104,139,307 | C/T | — | uncertain significance |
| rs754503039 | 10:104,139,370 | A/G | — | uncertain significance |
| rs371117105 | 10:104,140,106 | C/T | — | uncertain significance |
| rs2060782347 | 10:104,140,326 | C/T | — | uncertain significance |
| rs776452222 | 10:104,140,356 | T/G | — | uncertain significance |
| rs1181423247 | 10:104,140,363 | T/C | — | uncertain significance |
| rs767958584 | 10:104,140,406 | C/A | — | uncertain significance |
| rs758179538 | 10:104,140,430 | G/C | — | uncertain significance |
| rs2060820566 | 10:104,140,894 | C/T | — | likely benign |
| rs551452443 | 10:104,140,943 | G/A | — | uncertain significance |
Showing 100 of 110 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.