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.Y587F

c.1760A>T

Surrounding Variants

1 paper

NM_002203.4

p.Q581L

c.1742A>T

1 paper

NM_002203.4

p.Q581K

c.1741C>A

1 paper

NM_002203.4

p.R597H

c.1790G>A

2 papers

NM_002203.4

p.T598R

c.1793C>G

1 paper

NM_002203.4

p.I573F

c.1717A>T

1 paper

NM_002203.4

p.S556*

c.1667C>A

1 paper

NM_002203.4

p.S556*

c.1667C>G

1 paper

NM_002203.4

p.E550D

c.1650A>C

1 paper

NM_002203.4

p.E550D

c.1650A>T

21 papers

NM_002203.4

p.E550K

c.1648G>A

1 paper

NM_002203.4

p.G548_T552delFs

c.1644_1654del11

1 paper

NM_002203.4

p.I604T

c.1811T>C