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

5 papers

NM_181501.2

p.E800A

c.2399A>C

Surrounding Variants

1 paper

NM_181501.2

p.A823S

c.2467G>T

1 paper

NM_181501.2

p.K744R

c.2231A>G

1 paper

NM_181501.2

p.K744fs

c.2230_2231fs

1 paper

NM_181501.2

p.Q741_E742delFs

c.2223_2226del4

1 paper

NM_181501.2

p.V841I

c.2521G>A

1 paper

NM_181501.2

p.S862F

c.2585C>T

1 paper

NM_181501.2

p.V706M

c.2116G>A

1 paper

NM_181501.2

p.Q684*

c.2050C>T

1 paper

NM_181501.2

p.K680T

c.2039A>C

1 paper

NM_181501.2

p.M674K

c.2021T>A

1 paper

NM_181501.2

p.V670I

c.2008G>A

1 paper

NM_181501.2

p.A668V

c.2003C>T