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.L677P

c.2030T>C

Surrounding Variants

1 paper

NM_002203.4

p.I666fs

c.1996_1997fs

1 paper

NM_002203.4

p.I666insFs

c.1996_1997insA

1 paper

NM_002203.4

p.D654N

c.1960G>A

1 paper

NM_002203.4

p.I652T

c.1955T>C

1 paper

NM_002203.4

p.V636M

c.1906G>A

1 paper

NM_002203.4

p.D631V

c.1892A>T

1 paper

NM_002203.4

p.D631N

c.1891G>A

1 paper

NM_002203.4

p.L622F

c.1866G>C

1 paper

NM_002203.4

p.L622F

c.1866G>T

1 paper

NM_002203.4

p.Q616*

c.1846C>T

1 paper

NM_002203.4

p.A610_F611insT

c.1828_1832ins3

1 paper

NM_002203.4

p.I604I

c.1812C>T