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.R386Q

c.1157G>A

Surrounding Variants

2 papers

NM_000419.5

p.R386*

c.1156C>T

6 papers

NM_000419.5

p.G388S

c.1162G>A

1 paper

NM_000419.5

p.Q382L

c.1145A>T

2 papers

NM_000419.5

p.T381I

c.1142C>T

1 paper

NM_000419.5

p.I391I

c.1173C>T

3 papers

NM_000419.5

p.G380V

c.1139G>T

3 papers

NM_000419.5

p.G380D

c.1139G>A

1 paper

NM_000419.5

p.T379N

c.1136C>A

1 paper

NM_000419.5

p.G395V

c.1184G>T

7 papers

NM_000419.5

p.D396N

c.1186G>A

1 paper

NM_000419.5

p.S375R

c.1125C>G

1 paper

NM_000419.5

p.S375R

c.1125C>A