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

2 papers

NM_000419.5

p.G267Splc

c.800-1G>A

Surrounding Variants

1 paper

NM_000419.5

p.G267R

c.799G>C

4 papers

NM_000419.5

p.G267E

c.800G>A

1 paper

NM_000419.5

p.G267Splc

c.800-2A>G

1 paper

NM_000419.5

p.S269L

c.806C>T

1 paper

NM_000419.5

p.A271G

c.812C>G

1 paper

NM_000419.5

p.G273R

c.817G>C

1 paper

NM_000419.5

p.G273S

c.817G>A

13 papers

NM_000419.5

p.G273D

c.818G>A

1 paper

NM_000419.5

p.E274D

c.822G>T

1 paper

NM_000419.5

p.E274D

c.822G>C

1 paper

NM_000419.5

p.F275F

c.825C>T

1 paper

NM_000419.5

p.D276N

c.826G>A