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.A91A

c.273C>A

Surrounding Variants

1 paper

NM_000419.5

p.R90T

c.269G>C

1 paper

NM_000419.5

p.G93V

c.278G>T

1 paper

NM_000419.5

p.R90G

c.268A>G

1 paper

NM_000419.5

p.W89*

c.267G>A

1 paper

NM_000419.5

p.W89*

c.266G>A

1 paper

NM_000419.5

p.P88S

c.262C>T

1 paper

NM_000419.5

p.C96S

c.286T>A

1 paper

NM_000419.5

p.C96S

c.287G>C

7 papers

NM_000419.5

p.L86P

c.257T>C

1 paper

NM_000419.5

p.P97S

c.289C>T

6 papers

NM_000419.5

p.C96delFs

c.288delG

1 paper

NM_000419.5

p.V84_F85insC

c.250_254ins3