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.E233G

c.698A>G

Surrounding Variants

1 paper

NM_002203.4

p.M235T

c.704T>C

1 paper

NM_002203.4

p.N225_L226Fs

c.675_676delinsGFs

1 paper

NM_002203.4

p.R221T

c.662G>C

1 paper

NM_002203.4

p.P220L

c.659C>T

1 paper

NM_002203.4

p.N218fs

c.652_653fs

1 paper

NM_002203.4

p.F253L

c.757T>C

1 paper

NM_002203.4

p.F253L

c.759C>A

1 paper

NM_002203.4

p.F253L

c.759C>G

8 papers

NM_002203.4

p.F253F

c.759C>T

1 paper

NM_002203.4

p.G212G

c.636G>A

1 paper

NM_002203.4

p.G212V

c.635G>T

1 paper

NM_002203.4

p.A259V

c.776C>T