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

1–12 of 207 variants

74 papers

NM_002203.4

p.M291I

c.873G>A

21 papers

NM_002203.4

p.E550K

c.1648G>A

18 papers

NM_002203.4

p.E534K

c.1600G>A

12 papers

NM_002203.4

p.G269G

c.807T>C

8 papers

NM_002203.4

p.F253F

c.759C>T

5 papers

NM_002203.4

p.R76Q

c.227G>A

5 papers

NM_002203.4

p.Q745H

c.2235G>T

5 papers

NM_002203.4

p.T828M

c.2483C>T

4 papers

NM_002203.4

p.S100P

c.298T>C

3 papers

NM_002203.4

p.M109I

c.327G>A

3 papers

NM_002203.4

p.M109I

c.327G>C

3 papers

NM_002203.4

p.M109I

c.327G>T