Varaico: Literature-Extracted Genetic Variants

ITGA2B

706 papers

RefSeq Summary

This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide li...

Pfam Domains

FG-GAPaa 320–362UCSCFG-GAP repeat

FG-GAPaa 387–423UCSCFG-GAP repeat

Integrin_A_Ig_1aa 481–632UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 633–773UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 779–989UCSCIntegrin alpha Ig-like domain 3

Integrin_alphaaa 1020–1034UCSCIntegrin alpha cytoplasmic region

Gene Aliases

HGNC Name

integrin subunit alpha 2b

HGNC Previous Symbol

GP2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000419.5

p.G224Splc

c.671-1G>A

Surrounding Variants

1 paper

NM_000419.5

p.L225_L226Fs

c.675_676delinsGFs

5 papers

NM_000419.5

p.Q228*

c.682C>T

1 paper

NM_000419.5

p.A229T

c.685G>A

1 paper

NM_000419.5

p.A229V

c.686C>T

1 paper

NM_000419.5

p.P230L

c.689C>T

1 paper

NM_000419.5

p.V231insFs

c.692_693insT

1 paper

NM_000419.5

p.S237G

c.709A>G

1 paper

NM_000419.5

p.Y238C

c.713A>G

2 papers

NM_000419.5

p.P240S

c.718C>T

2 papers

NM_000419.5

p.I242delFs

c.726delG

1 paper

NM_000419.5

p.S248A

c.742T>G

1 paper

NM_000419.5

p.Q250*

c.748C>T