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.I892insFs

c.2674_2675insGA

Surrounding Variants

3 papers

NM_000419.5

p.I892delFs

c.2674delT

3 papers

NM_000419.5

p.Q891*

c.2671C>T

1 paper

NM_000419.5

p.R887Q

c.2660G>A

3 papers

NM_000419.5

p.R887W

c.2659C>T

1 paper

NM_000419.5

p.P897R

c.2690C>G

1 paper

NM_000419.5

p.P875_H885delFs

c.2623_2653del31

2 papers

NM_000419.5

p.S901*

c.2702C>A

1 paper

NM_000419.5

p.P882L

c.2645C>T

1 paper

NM_000419.5

p.R902G

c.2704A>G

1 paper

NM_000419.5

p.H881R

c.2642A>G

2 papers

NM_000419.5

p.P879delFs

c.2637delG

1 paper

NM_000419.5

p.L908F

c.2722C>T