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

1–12 of 78 variants

5 papers

NM_181501.2

p.E800A

c.2399A>C

5 papers

NM_181501.2

p.I961M

c.2883T>G

4 papers

NM_181501.2

p.T480M

c.1439C>T

2 papers

NM_181501.2

p.E221K

c.661G>A

2 papers

NM_181501.2

p.E1108G

c.3323A>G

2 papers

NM_181501.2

p.R1139K

c.3416G>A

1 paper

NM_181501.2

p.R4R

c.12G>C

1 paper

NM_181501.2

p.V11F

c.31G>T

1 paper

NM_181501.2

p.V21Splc

c.61+12078T>C

1 paper

NM_181501.2

p.F29L

c.87C>A

1 paper

NM_181501.2

p.V31D

c.92T>A

1 paper

NM_181501.2

p.V33A

c.98T>C