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.L338_A341del0

c.1012_1023del12

Surrounding Variants

2 papers

NM_000419.5

p.P342S

c.1024C>T

7 papers

NM_000419.5

p.L343P

c.1028T>C

2 papers

NM_000419.5

p.A341V

c.1022C>T

1 paper

NM_000419.5

p.A341P

c.1021G>C

1 paper

NM_000419.5

p.A341T

c.1021G>A

1 paper

NM_000419.5

p.Y344H

c.1030T>C

1 paper

NM_000419.5

p.G340A

c.1019G>C

2 papers

NM_000419.5

p.Y344C

c.1031A>G

2 papers

NM_000419.5

p.Y344S

c.1031A>C

1 paper

NM_000419.5

p.R348P

c.1043G>C

1 paper

NM_000419.5

p.D336N

c.1006G>A

1 paper

NM_000419.5

p.R334T

c.1001G>C