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

2 papers

NM_181501.2

p.E221K

c.661G>A

Surrounding Variants

1 paper

NM_181501.2

p.E221A

c.662A>C

1 paper

NM_181501.2

p.V218M

c.652G>A

1 paper

NM_181501.2

p.N217N

c.651C>T

1 paper

NM_181501.2

p.E231K

c.691G>A

1 paper

NM_181501.2

p.V241F

c.721G>T

1 paper

NM_181501.2

p.E260G

c.779A>G

1 paper

NM_181501.2

p.K273delFs

c.817delA

1 paper

NM_181501.2

p.C297F

c.890G>T