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.A406T

c.1216G>A

Surrounding Variants

8 papers

NM_000419.5

p.I405T

c.1214T>C

4 papers

NM_000419.5

p.P410delFs

c.1230delG

2 papers

NM_000419.5

p.Y411*

c.1233C>G

2 papers

NM_000419.5

p.Y411*

c.1233C>A

1 paper

NM_000419.5

p.G412W

c.1234G>T

11 papers

NM_000419.5

p.G412R

c.1234G>C

12 papers

NM_000419.5

p.G412R

c.1234G>A

1 paper

NM_000419.5

p.P414S

c.1240C>T

1 paper

NM_000419.5

p.P414L

c.1241C>T

1 paper

NM_000419.5

p.P410_G413del0

c.1228_1239del12

1 paper

NM_000419.5

p.R417Q

c.1250G>A

1 paper

NM_000419.5

p.G418C

c.1252G>T