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

17 papers

NM_000419.5

p.R63Splc

c.189-1G>T

Surrounding Variants

1 paper

NM_000419.5

p.R63Splc

c.189-1G>C

5 papers

NM_000419.5

p.R63Splc

c.189-1G>A

2 papers

NM_000419.5

p.V64M

c.190G>A

2 papers

NM_000419.5

p.A65T

c.193G>A

1 paper

NM_000419.5

p.I66S

c.197T>G

1 paper

NM_000419.5

p.V67V

c.201G>A

1 paper

NM_000419.5

p.V68M

c.202G>A

1 paper

NM_000419.5

p.P71S

c.211C>T

1 paper

NM_000419.5

p.R72P

c.215G>C

1 paper

NM_000419.5

p.R72_T73insFs

c.216_217insA

1 paper

NM_000419.5

p.T73_L74insFs

c.219_220insT

1 paper

NM_000419.5

p.P76A

c.226C>G