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.F254insFs

c.761dupT

Surrounding Variants

1 paper

NM_000419.5

p.D255N

c.763G>A

1 paper

NM_000419.5

p.F254L

c.762T>G

2 papers

NM_000419.5

p.F254L

c.762T>A

1 paper

NM_000419.5

p.D255V

c.764A>T

1 paper

NM_000419.5

p.F254L

c.760T>C

1 paper

NM_000419.5

p.S253S

c.759C>T

1 paper

NM_000419.5

p.S257G

c.769A>G

2 papers

NM_000419.5

p.S251N

c.752G>A

1 paper

NM_000419.5

p.E260K

c.778G>A

1 paper

NM_000419.5

p.Q250*

c.748C>T

1 paper

NM_000419.5

p.S248A

c.742T>G

2 papers

NM_000419.5

p.D263N

c.787G>A