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.A263A

c.789T>C

Surrounding Variants

1 paper

NM_002203.4

p.A263V

c.788C>T

3 papers

NM_002203.4

p.Y262Y

c.786T>C

3 papers

NM_002203.4

p.G269G

c.807T>A

12 papers

NM_002203.4

p.G269G

c.807T>C

1 paper

NM_002203.4

p.G269G

c.807T>G

3 papers

NM_002203.4

p.T275T

c.825G>A

1 paper

NM_002203.4

p.K276I

c.827A>T

74 papers

NM_002203.4

p.M291I

c.873G>A

1 paper

NM_002203.4

p.M291I

c.873G>T

1 paper

NM_002203.4

p.C299C

c.897C>T

1 paper

NM_002203.4

p.R317insFs

c.949_950insA

1 paper

NM_002203.4

p.L320V

c.958C>G