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

20 papers

NM_000419.5

p.R584*

c.1750C>T

Surrounding Variants

2 papers

NM_000419.5

p.R584_D585Splc

c.1752+2T>C

3 papers

NM_000419.5

p.A581D

c.1742C>A

1 paper

NM_000419.5

p.G570R

c.1708G>C

1 paper

NM_000419.5

p.G570R

c.1708G>A

1 paper

NM_000419.5

p.G569D

c.1706G>A

1 paper

NM_000419.5

p.N565_L568del4

c.1693_1703del12

6 papers

NM_000419.5

p.T562N

c.1685C>A

2 papers

NM_000419.5

p.T562A

c.1684A>G

1 paper

NM_000419.5

p.G561A

c.1682G>C

3 papers

NM_000419.5

p.G561S

c.1681G>A

1 paper

NM_000419.5

p.Q558*

c.1672C>T

1 paper

NM_000419.5

p.L555P

c.1664T>C