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.A777D

c.2330C>A

Surrounding Variants

1 paper

NM_000419.5

p.A777S

c.2329G>T

1 paper

NM_000419.5

p.E776_A777ins0

c.2326_2331dup6

12 papers

NM_000419.5

p.Q778P

c.2333A>C

1 paper

NM_000419.5

p.Q778Q

c.2334A>G

1 paper

NM_000419.5

p.E780delFs

c.2338delC

2 papers

NM_000419.5

p.R774W

c.2320C>T

1 paper

NM_000419.5

p.R782*

c.2344C>T

5 papers

NM_000419.5

p.P772R

c.2315C>G

2 papers

NM_000419.5

p.V771L

c.2311G>T

1 paper

NM_000419.5

p.G783Splc

c.2348+1G>C

1 paper

NM_000419.5

p.V771L

c.2311G>C

1 paper

NM_000419.5

p.V771M

c.2311G>A