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

2 papers

NM_000419.5

p.R543Q

c.1628G>A

Surrounding Variants

4 papers

NM_000419.5

p.R543W

c.1627C>T

1 paper

NM_000419.5

p.Q544R

c.1631A>G

1 paper

NM_000419.5

p.Q540H

c.1620G>T

1 paper

NM_000419.5

p.Q540H

c.1620G>C

1 paper

NM_000419.5

p.Q540*

c.1618C>T

1 paper

NM_000419.5

p.L539R

c.1616T>G

2 papers

NM_000419.5

p.R547R

c.1641C>T

2 papers

NM_000419.5

p.R547R

c.1641C>G

1 paper

NM_000419.5

p.E538*

c.1612G>T

2 papers

NM_000419.5

p.G549A

c.1646G>C

1 paper

NM_000419.5

p.A537V

c.1610C>T

1 paper

NM_000419.5

p.N536delFs

c.1608delA