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

1 paper

NM_000419.5

p.L214F

c.640C>T

Surrounding Variants

3 papers

NM_000419.5

p.L214R

c.641T>G

16 papers

NM_000419.5

p.L214P

c.641T>C

1 paper

NM_000419.5

p.L212L

c.636G>A

1 paper

NM_000419.5

p.A216_P217insA

c.646_650ins3

1 paper

NM_000419.5

p.A216V

c.647C>T

1 paper

NM_000419.5

p.G219S

c.655G>A

3 papers

NM_000419.5

p.Y220C

c.659A>G

1 paper

NM_000419.5

p.F222L

c.664T>C

1 paper

NM_000419.5

p.F222L

c.666C>G

1 paper

NM_000419.5

p.F222L

c.666C>A

1 paper

NM_000419.5

p.G224Splc

c.670+5G>A

1 paper

NM_000419.5

p.Q208_A209Splc

c.624+1G>A