ITGA1
integrin subunit alpha 1
Summary
This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772065571 | 5:52,084,203 | C/A | — | uncertain significance |
| rs1382349596 | 5:52,084,236 | T/C | — | uncertain significance |
| rs2897351 | 5:52,084,441 | C/G | — | — |
| rs6867040 | 5:52,084,843 | C/A | — | — |
| rs116734477 | 5:52,095,024 | C/T | regulatory region variant | — |
| rs6450091 | 5:52,111,319 | T/A | — | — |
| rs56410424 | 5:52,116,748 | C/T | intron variant | — |
| rs2456224 | 5:52,120,246 | G/A | — | — |
| rs1862610 | 5:52,127,880 | G/A | — | — |
| rs2432143 | 5:52,131,315 | T/C | intron variant | — |
| rs73756267 | 5:52,138,990 | C/T | intron variant | — |
| rs114549034 | 5:52,139,770 | A/G | intron variant | — |
| rs764123493 | 5:52,145,207 | C/T | — | uncertain significance |
| rs73102285 | 5:52,155,642 | A/G | regulatory region variant | — |
| rs73754057 | 5:52,156,781 | T/A | intron variant | — |
| rs200169693 | 5:52,157,337 | A/G | — | uncertain significance |
| rs139297018 | 5:52,157,340 | A/G | — | uncertain significance |
| rs61757093 | 5:52,157,347 | A/G | — | benign |
| rs2447867 | 5:52,157,374 | T/G | missense variant | — |
| rs200986699 | 5:52,160,863 | G/C | — | uncertain significance |
| rs201701560 | 5:52,160,892 | G/A | — | benign |
| rs2531228335 | 5:52,161,584 | G/C | — | uncertain significance |
| rs73106321 | 5:52,166,992 | G/A | intron variant | — |
| rs768957033 | 5:52,177,705 | G/A | — | uncertain significance |
| rs1003303207 | 5:52,177,732 | G/T | — | uncertain significance |
| rs2531247648 | 5:52,177,738 | C/T | — | uncertain significance |
| rs16880415 | 5:52,177,743 | G/A | — | benign |
| rs2456203 | 5:52,179,790 | T/G | — | — |
| rs67715745 | 5:52,180,278 | T/A | — | — |
| rs2531253580 | 5:52,183,764 | T/G | — | uncertain significance |
| rs12522114 | 5:52,187,038 | C/T | — | — |
| rs4074793 | 5:52,193,125 | A/G | intron variant | — |
| rs1531545 | 5:52,193,287 | C/G | splice region variant | — |
| rs1258826881 | 5:52,194,080 | G/A | — | uncertain significance |
| rs1424282293 | 5:52,194,100 | A/C | — | uncertain significance |
| rs749875534 | 5:52,194,163 | C/T | — | uncertain significance |
| rs1979398 | 5:52,194,327 | A/C | — | — |
| rs1551943 | 5:52,195,033 | G/A | upstream gene variant | — |
| rs16880453 | 5:52,195,507 | G/C | regulatory region variant | — |
| rs78464352 | 5:52,196,261 | G/A | upstream gene variant | — |
| rs1474779717 | 5:52,201,661 | A/G | — | uncertain significance |
| rs140306833 | 5:52,201,745 | T/C | — | benign |
| rs1324623877 | 5:52,204,813 | T/A | — | uncertain significance |
| rs200679010 | 5:52,206,050 | G/A | — | uncertain significance |
| rs757908946 | 5:52,206,101 | G/A | — | uncertain significance |
| rs374431106 | 5:52,206,137 | A/G | — | uncertain significance |
| rs2531279383 | 5:52,206,233 | G/C | — | uncertain significance |
| rs138709169 | 5:52,211,331 | T/G | — | uncertain significance |
| rs149318886 | 5:52,211,402 | C/T | — | uncertain significance |
| rs1199064994 | 5:52,216,206 | C/G | — | uncertain significance |
| rs78974803 | 5:52,216,217 | C/T | — | benign |
| rs1318914606 | 5:52,216,258 | T/G | — | uncertain significance |
| rs1259805465 | 5:52,216,261 | G/A | — | uncertain significance |
| rs771880337 | 5:52,218,641 | C/T | — | uncertain significance |
| rs1750751308 | 5:52,218,697 | C/A | — | uncertain significance |
| rs758259416 | 5:52,221,171 | G/A | — | uncertain significance |
| rs146428445 | 5:52,221,220 | T/A | — | uncertain significance |
| rs2111879416 | 5:52,221,283 | A/G | — | uncertain significance |
| rs60925406 | 5:52,221,748 | T/C | intron variant | — |
| rs747772600 | 5:52,227,889 | A/G | — | likely benign |
| rs1223725043 | 5:52,227,890 | C/A | — | uncertain significance |
| rs138669753 | 5:52,227,933 | C/T | — | uncertain significance |
| rs1192724971 | 5:52,229,725 | T/C | — | uncertain significance |
| rs12520591 | 5:52,229,745 | T/G | missense variant | — |
| rs745759434 | 5:52,229,749 | A/G | — | uncertain significance |
| rs539547486 | 5:52,229,759 | A/G | — | uncertain significance |
| rs1286278024 | 5:52,229,763 | G/T | — | uncertain significance |
| rs1041392666 | 5:52,229,794 | G/A | — | uncertain significance |
| rs755410920 | 5:52,229,803 | A/C | — | uncertain significance |
| rs765843175 | 5:52,233,332 | G/C | — | uncertain significance |
| rs186918043 | 5:52,235,426 | A/G | — | uncertain significance |
| rs923334732 | 5:52,235,451 | A/T | — | uncertain significance |
| rs1018095847 | 5:52,235,672 | C/T | — | likely benign |
| rs368104970 | 5:52,235,675 | C/G | — | uncertain significance |
| rs143105379 | 5:52,240,775 | A/G | — | benign |
| rs151102756 | 5:52,240,850 | A/C | — | benign |
| rs372660190 | 5:52,243,193 | A/G | — | uncertain significance |
| rs1239270137 | 5:52,248,249 | A/C | — | uncertain significance |
| rs763814347 | 5:52,248,273 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.