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

1–12 of 715 variants

27 papers

NM_000419.5

p.I874S

c.2621T>G

20 papers

NM_000419.5

p.R584*

c.1750C>T

17 papers

NM_000419.5

p.R63Splc

c.189-1G>T

16 papers

NM_000419.5

p.L214P

c.641T>C

15 papers

NM_000419.5

p.R1026W

c.3076C>T

13 papers

NM_000419.5

p.G273D

c.818G>A

12 papers

NM_000419.5

p.E355K

c.1063G>A

12 papers

NM_000419.5

p.R358H

c.1073G>A

12 papers

NM_000419.5

p.G412R

c.1234G>A

12 papers

NM_000419.5

p.Q778P

c.2333A>C

11 papers

NM_000419.5

p.G412R

c.1234G>C

11 papers

NM_000419.5

p.G418D

c.1253G>A