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.V1021A

c.3062T>C

Surrounding Variants

8 papers

NM_000419.5

p.V1021V

c.3063C>T

2 papers

NM_000419.5

p.G1022C

c.3064G>T

1 paper

NM_000419.5

p.G1022V

c.3065G>T

1 paper

NM_000419.5

p.F1024del1

c.3070_3071delGAA

15 papers

NM_000419.5

p.R1026W

c.3076C>T

9 papers

NM_000419.5

p.R1026Q

c.3077G>A

1 paper

NM_000419.5

p.R1028Q

c.3083G>A

1 paper

NM_000419.5

p.P1030L

c.3089C>T

1 paper

NM_000419.5

p.L1031fs

c.3091_3092fs

1 paper

NM_000419.5

p.L1031delFs

c.3091delG

3 papers

NM_000419.5

p.L1031delFs

c.3092delA

1 paper

NM_000419.5

p.L1031insFs

c.3092_3093dupTG