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.D705N

c.2113G>A

Surrounding Variants

1 paper

NM_002203.4

p.D703A

c.2108A>C

1 paper

NM_002203.4

p.E719*

c.2155G>T

1 paper

NM_002203.4

p.V730A

c.2189T>C

1 paper

NM_002203.4

p.Q745H

c.2235G>C

5 papers

NM_002203.4

p.Q745H

c.2235G>T

1 paper

NM_002203.4

p.Q745_E746Splc

c.2235+48G>A

1 paper

NM_002203.4

p.Q745_E746Splc

c.2235+72G>A

1 paper

NM_002203.4

p.C789Y

c.2366G>A

1 paper

NM_002203.4

p.A809T

c.2425G>A

1 paper

NM_002203.4

p.Q810R

c.2429A>G

1 paper

NM_002203.4

p.L677P

c.2030T>C

1 paper

NM_002203.4

p.I666fs

c.1996_1997fs