PLS1
plastin 1
Summary
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6440091 | 3:142,313,515 | C/G | — | — |
| rs6440092 | 3:142,313,987 | T/G | — | — |
| rs13086864 | 3:142,318,024 | A/G | intron variant | — |
| rs7428496 | 3:142,320,532 | A/T | intron variant | — |
| rs9826463 | 3:142,328,919 | C/G | intron variant | — |
| rs58910647 | 3:142,339,050 | T/C | upstream gene variant | — |
| rs7609842 | 3:142,339,815 | T/A | — | — |
| rs6804298 | 3:142,347,207 | C/T | — | — |
| rs77961515 | 3:142,382,995 | A/T | — | benign |
| rs13075015 | 3:142,383,290 | T/G | — | benign |
| rs2272150 | 3:142,383,318 | G/A | — | benign |
| rs6785894 | 3:142,384,363 | A/G | intron variant | — |
| rs374422572 | 3:142,388,234 | A/C | — | uncertain significance |
| rs765159104 | 3:142,388,297 | C/T | — | uncertain significance |
| rs758166026 | 3:142,388,318 | C/G | — | uncertain significance |
| rs7649271 | 3:142,389,625 | A/G | — | benign |
| rs2140436 | 3:142,389,669 | G/T | — | benign |
| rs779525911 | 3:142,389,878 | G/A | — | uncertain significance |
| rs148556280 | 3:142,389,909 | T/G | — | benign |
| rs188609544 | 3:142,389,928 | A/G | — | uncertain significance |
| rs59936227 | 3:142,390,001 | G/T | — | benign |
| rs73868112 | 3:142,390,138 | C/A | — | benign |
| rs73230507 | 3:142,393,549 | T/C | downstream gene variant | — |
| rs16852550 | 3:142,394,953 | A/G | — | benign |
| rs1577876794 | 3:142,395,017 | T/C | — | likely pathogenic |
| rs763975641 | 3:142,395,063 | G/A | — | likely benign |
| rs35710125 | 3:142,395,072 | A/G | — | benign |
| rs2472719162 | 3:142,395,117 | T/A | — | uncertain significance |
| rs758038936 | 3:142,396,920 | A/G | — | uncertain significance |
| rs13095840 | 3:142,397,620 | A/G | downstream gene variant | — |
| rs940210908 | 3:142,402,851 | A/C | — | uncertain significance |
| rs35435507 | 3:142,402,915 | C/T | — | benign |
| rs148154571 | 3:142,402,975 | T/C | — | likely benign |
| rs1577888561 | 3:142,402,981 | T/G | — | uncertain significance |
| rs78264424 | 3:142,403,001 | T/C | — | likely benign |
| rs1315798523 | 3:142,403,005 | G/A | — | uncertain significance |
| rs201068539 | 3:142,403,119 | G/A | — | uncertain significance |
| rs1219237048 | 3:142,403,144 | G/C | — | uncertain significance |
| rs1577888985 | 3:142,403,154 | G/A | — | conflicting classifications of pathogenicity |
| rs375940274 | 3:142,403,161 | T/C | — | uncertain significance |
| rs771783636 | 3:142,403,209 | C/G | — | uncertain significance |
| rs73002070 | 3:142,403,242 | A/G | — | benign |
| rs59181450 | 3:142,403,415 | A/T | — | benign |
| rs77132919 | 3:142,405,067 | C/T | — | benign |
| rs145126591 | 3:142,405,134 | A/G | — | likely benign |
| rs41265481 | 3:142,405,191 | C/T | — | likely benign |
| rs768773203 | 3:142,405,199 | T/C | — | uncertain significance |
| rs149284875 | 3:142,405,201 | G/A | — | uncertain significance |
| rs2472757233 | 3:142,405,223 | G/T | — | uncertain significance |
| rs11714087 | 3:142,405,348 | C/T | — | benign |
| rs770181449 | 3:142,408,478 | C/T | — | uncertain significance |
| rs189552122 | 3:142,408,502 | G/A | — | benign |
| rs146967957 | 3:142,408,506 | A/T | — | conflicting classifications of pathogenicity |
| rs1309193032 | 3:142,408,539 | C/A | — | uncertain significance |
| rs2472769841 | 3:142,408,553 | G/C | — | uncertain significance |
| rs2472769901 | 3:142,408,562 | A/G | — | uncertain significance |
| rs1560070780 | 3:142,408,565 | C/T | — | likely pathogenic |
| rs1315328441 | 3:142,408,580 | G/T | — | uncertain significance |
| rs6793735 | 3:142,408,606 | A/G | — | benign |
| rs2038152128 | 3:142,413,313 | G/A | — | uncertain significance |
| rs2472784778 | 3:142,413,315 | G/C | — | uncertain significance |
| rs1311775154 | 3:142,413,327 | G/C | — | uncertain significance |
| rs2038153095 | 3:142,413,341 | A/G | — | uncertain significance |
| rs6789958 | 3:142,413,407 | C/T | — | benign |
| rs2472797243 | 3:142,416,805 | G/A | — | uncertain significance |
| rs750067280 | 3:142,416,817 | A/G | — | uncertain significance |
| rs2472797390 | 3:142,416,833 | A/T | — | uncertain significance |
| rs912702614 | 3:142,416,837 | G/A | — | uncertain significance |
| rs3773504 | 3:142,417,070 | G/A | — | benign |
| rs1483902949 | 3:142,422,780 | G/A | — | uncertain significance |
| rs539991244 | 3:142,422,797 | G/A | — | uncertain significance |
| rs140151835 | 3:142,423,381 | C/G | — | uncertain significance |
| rs1045806137 | 3:142,423,407 | G/T | — | likely benign |
| rs1444123247 | 3:142,423,412 | C/T | — | uncertain significance |
| rs112239407 | 3:142,423,534 | A/G | — | benign |
| rs73864408 | 3:142,430,171 | A/G | — | benign |
| rs150992246 | 3:142,430,370 | G/A | — | uncertain significance |
| rs1283780796 | 3:142,430,371 | T/A | — | uncertain significance |
| rs146341428 | 3:142,430,410 | G/A | — | uncertain significance |
| rs2472846661 | 3:142,430,715 | T/C | — | uncertain significance |
| rs1933145139 | 3:142,430,718 | G/A | — | uncertain significance |
| rs373334764 | 3:142,430,748 | C/T | — | uncertain significance |
| rs764235919 | 3:142,430,770 | A/G | — | uncertain significance |
| rs377437573 | 3:142,430,782 | T/C | — | uncertain significance |
| rs369992185 | 3:142,430,787 | C/G | — | uncertain significance |
| rs1933152012 | 3:142,430,805 | G/A | — | uncertain significance |
| rs144853166 | 3:142,430,834 | G/T | — | likely benign |
| rs3773506 | 3:142,431,000 | G/C | 3 prime UTR variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.