CAPG
capping actin protein, gelsolin like
Summary
This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542743986 | 2:85,619,935 | G/A | — | — |
| rs111523274 | 2:85,621,945 | C/T | downstream gene variant | — |
| rs6886 | 2:85,622,059 | T/C | missense variant | — |
| rs77928258 | 2:85,623,485 | G/T | downstream gene variant | — |
| rs60889798 | 2:85,624,310 | C/T | — | — |
| rs60033612 | 2:85,625,174 | G/A | — | benign |
| rs2529213741 | 2:85,625,193 | T/C | — | uncertain significance |
| rs760116737 | 2:85,625,254 | T/C | — | uncertain significance |
| rs775075074 | 2:85,625,259 | C/T | — | uncertain significance |
| rs528271658 | 2:85,625,344 | G/A | — | — |
| rs749845690 | 2:85,625,839 | T/G | — | uncertain significance |
| rs117284777 | 2:85,625,892 | T/C | — | benign |
| rs139854959 | 2:85,627,661 | C/T | intron variant | — |
| rs185763147 | 2:85,628,347 | G/A | — | uncertain significance |
| rs142762000 | 2:85,628,350 | C/A | — | not provided |
| rs200720697 | 2:85,628,359 | G/A | — | uncertain significance |
| rs375167913 | 2:85,628,668 | C/T | — | likely benign |
| rs764009099 | 2:85,628,714 | C/G | — | uncertain significance |
| rs750346858 | 2:85,628,717 | G/A | — | uncertain significance |
| rs371246622 | 2:85,628,731 | C/T | — | uncertain significance |
| rs763900464 | 2:85,628,762 | C/G | — | uncertain significance |
| rs756006551 | 2:85,628,791 | C/T | — | uncertain significance |
| rs1686914504 | 2:85,628,997 | T/C | — | likely benign |
| rs140150295 | 2:85,629,012 | G/A | — | uncertain significance |
| rs182830943 | 2:85,637,185 | G/A | regulatory region variant | — |
| rs138655957 | 2:85,642,132 | A/G | regulatory region variant | — |
| rs72831571 | 2:85,642,952 | A/G | upstream gene variant | — |
| rs185918310 | 2:85,644,491 | C/G | upstream gene variant | — |
| rs141044740 | 2:85,645,310 | C/G | regulatory region variant | — |
| rs62162752 | 2:85,645,545 | A/C | regulatory region variant | — |
| rs150339178 | 2:85,647,906 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.