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.Q810Splc

c.2430-8T>C

Surrounding Variants

2 papers

NM_002203.4

p.R822S

c.2466G>C

2 papers

NM_002203.4

p.F825C

c.2474T>G

5 papers

NM_002203.4

p.T828M

c.2483C>T

1 paper

NM_002203.4

p.T828T

c.2484G>A

1 paper

NM_002203.4

p.G840V

c.2519G>T

1 paper

NM_002203.4

p.D844G

c.2531A>G

1 paper

NM_002203.4

p.L856L

c.2568G>A

1 paper

NM_002203.4

p.P857_V858Splc

c.2571+10G>C

1 paper

NM_002203.4

p.P857_V858Splc

c.2571+104A>G

1 paper

NM_002203.4

p.Q810R

c.2429A>G

1 paper

NM_002203.4

p.A809T

c.2425G>A

1 paper

NM_002203.4

p.C789Y

c.2366G>A