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.R358delFs

c.1073delC

Surrounding Variants

12 papers

NM_000419.5

p.R358H

c.1073G>A

1 paper

NM_000419.5

p.V359M

c.1075G>A

1 paper

NM_000419.5

p.G357_R358insFs

c.1071_1072insG

12 papers

NM_000419.5

p.E355K

c.1063G>A

1 paper

NM_000419.5

p.A354A

c.1062C>G

1 paper

NM_000419.5

p.R351_L353del0

c.1053_1058del6

2 papers

NM_000419.5

p.R366*

c.1096C>T

1 paper

NM_000419.5

p.R366Q

c.1097G>A

1 paper

NM_000419.5

p.R351*

c.1051C>T

1 paper

NM_000419.5

p.R348P

c.1043G>C

1 paper

NM_000419.5

p.H369P

c.1106A>C

1 paper

NM_000419.5

p.G367insFs

c.1101dupC