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.P434S

c.1300C>T

Surrounding Variants

1 paper

NM_000419.5

p.R433C

c.1297C>T

1 paper

NM_000419.5

p.P434_Q436delFs

c.1302_1306del5

1 paper

NM_000419.5

p.V437V

c.1311C>T

1 paper

NM_000419.5

p.L438M

c.1312C>A

1 paper

NM_000419.5

p.S427delFs

c.1280delC

1 paper

NM_000419.5

p.P441A

c.1321C>G

1 paper

NM_000419.5

p.P441P

c.1323C>T

1 paper

NM_000419.5

p.L424L

c.1272G>C

1 paper

NM_000419.5

p.L424fs

c.1270_1271fs

2 papers

NM_000419.5

p.V422M

c.1264G>A

3 papers

NM_000419.5

p.V420V

c.1260G>A

1 paper

NM_000419.5

p.V420A

c.1259T>C