Varaico: Literature-Extracted Genetic Variants

ITGA2

425 papers

RefSeq Summary

This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets a...

Pfam Domains

VWAaa 174–355UCSCvon Willebrand factor type A domain

FG-GAPaa 491–530UCSCFG-GAP repeat

FG-GAPaa 554–589UCSCFG-GAP repeat

Integrin_A_Ig_2aa 789–932UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 949–1122UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 2

HGNC Previous Symbol

CD49B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002203.4

p.S100P

c.298T>C

Surrounding Variants

2 papers

NM_002203.4

p.S100A

c.298T>G

1 paper

NM_002203.4

p.E108insFs

c.323_324ins10

1 paper

NM_002203.4

p.M109L

c.325A>C

3 papers

NM_002203.4

p.M109I

c.327G>A

3 papers

NM_002203.4

p.M109I

c.327G>C

3 papers

NM_002203.4

p.M109I

c.327G>T

1 paper

NM_002203.4

p.S114N

c.341G>A

1 paper

NM_002203.4

p.G116S

c.346G>A

1 paper

NM_002203.4

p.L117W

c.350T>G

1 paper

NM_002203.4

p.F128Y

c.383T>A

1 paper

NM_002203.4

p.K94*

c.280A>T

1 paper

NM_002203.4

p.E93V

c.278A>T