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.K195K

c.585G>A

Surrounding Variants

1 paper

NM_000419.5

p.R196C

c.586C>T

4 papers

NM_000419.5

p.K195T

c.584A>C

1 paper

NM_000419.5

p.S192Splc

c.575-1G>A

1 paper

NM_000419.5

p.S192Splc

c.575-2A>T

1 paper

NM_000419.5

p.S192Splc

c.575-2A>G

1 paper

NM_000419.5

p.A200V

c.599C>T

3 papers

NM_000419.5

p.G201S

c.601G>A

1 paper

NM_000419.5

p.G201A

c.602G>C

5 papers

NM_000419.5

p.F202C

c.605T>G

1 paper

NM_000419.5

p.S203R

c.607A>C

3 papers

NM_000419.5

p.V205M

c.613G>A

1 paper

NM_000419.5

p.V206D

c.617T>A