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.E1108G

c.3323A>G

Surrounding Variants

1 paper

NM_181501.2

p.S1099C

c.3296C>G

1 paper

NM_181501.2

p.S1121R

c.3361A>C

1 paper

NM_181501.2

p.S1121R

c.3363C>A

1 paper

NM_181501.2

p.S1121R

c.3363C>G

1 paper

NM_181501.2

p.N1122S

c.3365A>G

1 paper

NM_181501.2

p.E1126_L1127Splc

c.3378+1G>T

1 paper

NM_181501.2

p.G1135G

c.3405G>A

2 papers

NM_181501.2

p.R1139K

c.3416G>A

1 paper

NM_181501.2

p.I1145N

c.3434T>A

1 paper

NM_181501.2

p.A1151S

c.3451G>T

1 paper

NM_181501.2

p.I1087insFs

c.3261dupC

1 paper

NM_181501.2

p.S1080C

c.3238A>T