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.E328G

c.983A>G

Surrounding Variants

1 paper

NM_002203.4

p.K327fs

c.979_980fs

1 paper

NM_002203.4

p.I326insFs

c.977_978ins11

1 paper

NM_002203.4

p.K327_I329delFs

c.981_985del5

1 paper

NM_002203.4

p.A331A

c.993A>G

1 paper

NM_002203.4

p.K323fs

c.967_968fs

1 paper

NM_002203.4

p.K323_N324ins10

c.967_971ins30

1 paper

NM_002203.4

p.K323delFs

c.967delA

1 paper

NM_002203.4

p.L320V

c.958C>G

1 paper

NM_002203.4

p.R317insFs

c.949_950insA

1 paper

NM_002203.4

p.L350Q

c.1049T>A

1 paper

NM_002203.4

p.F362F

c.1086C>T

1 paper

NM_002203.4

p.S363G

c.1087A>G