Varaico: Literature-Extracted Genetic Variants

ITGA1

115 papers

RefSeq 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 i...

Pfam Domains

VWAaa 172–354UCSCvon Willebrand factor type A domain

FG-GAPaa 490–529UCSCFG-GAP repeat

FG-GAPaa 571–606UCSCFG-GAP repeat

Integrin_A_Ig_1aa 664–807UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 808–944UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 950–1134UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 1

HGNC Alias Symbols

VLA1; CD49a

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181501.2

p.W401C

c.1203G>C

Surrounding Variants

1 paper

NM_181501.2

p.W401C

c.1203G>T

1 paper

NM_181501.2

p.V396A

c.1187T>C

1 paper

NM_181501.2

p.D389A

c.1166A>C

1 paper

NM_181501.2

p.Q388_D389Splc

c.1165-1G>T

1 paper

NM_181501.2

p.T420I

c.1259C>T

1 paper

NM_181501.2

p.M375V

c.1123A>G

1 paper

NM_181501.2

p.T335A

c.1003A>G

1 paper

NM_181501.2

p.K328Q

c.982A>C

1 paper

NM_181501.2

p.K322I

c.965A>T

1 paper

NM_181501.2

p.I475N

c.1424T>A

4 papers

NM_181501.2

p.T480M

c.1439C>T