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.P464P

c.1392A>G

Surrounding Variants

1 paper

NM_000419.5

p.P464L

c.1391C>T

1 paper

NM_000419.5

p.P464Q

c.1391C>A

1 paper

NM_000419.5

p.D460_G462del3

c.1378_1385del9

1 paper

NM_000419.5

p.G462R

c.1384G>C

1 paper

NM_000419.5

p.G462R

c.1384G>A

2 papers

NM_000419.5

p.D459N

c.1375G>A

7 papers

NM_000419.5

p.I458M

c.1374C>G

1 paper

NM_000419.5

p.G454D

c.1361G>A

1 paper

NM_000419.5

p.R453*

c.1357C>T

1 paper

NM_000419.5

p.L452R

c.1355T>G

3 papers

NM_000419.5

p.G449D

c.1346G>A

1 paper

NM_000419.5

p.P441P

c.1323C>T