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

1 paper

NM_002203.4

p.D507D

c.1521C>T

Surrounding Variants

2 papers

NM_002203.4

p.V511V

c.1533A>G

1 paper

NM_002203.4

p.G512D

c.1535G>A

2 papers

NM_002203.4

p.M515I

c.1545G>A

1 paper

NM_002203.4

p.Y516C

c.1547A>G

1 paper

NM_002203.4

p.S518N

c.1553G>A

3 papers

NM_002203.4

p.I532L

c.1594A>C

1 paper

NM_002203.4

p.I532I

c.1596C>A

18 papers

NM_002203.4

p.E534K

c.1600G>A

1 paper

NM_002203.4

p.Q486_I487Splc

c.1458+5A>C

1 paper

NM_002203.4

p.R483Q

c.1448G>A

1 paper

NM_002203.4

p.N475S

c.1424A>G

1 paper

NM_002203.4

p.G474V

c.1421G>T