Varaico: Literature-Extracted Genetic Variants

ITGAD

96 papers

RefSeq Summary

This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit o...

Pfam Domains

VWAaa 150–327UCSCvon Willebrand factor type A domain

FG-GAPaa 457–494UCSCFG-GAP repeat

FG-GAPaa 520–555UCSCFG-GAP repeat

Integrin_A_Ig_1aa 614–767UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 768–917UCSCIntegrin alpha Ig-like domain 2

ITGAX-like_Ig_3aa 918–1096UCSCIntegrin alpha-X-like, Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha D

HGNC Alias Symbols

CD11d; ADB2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005353.3

p.R282C

c.844C>T

Surrounding Variants

1 paper

NM_005353.3

p.A284T

c.850G>A

1 paper

NM_005353.3

p.Y268C

c.803A>G

1 paper

NM_005353.3

p.S248T

c.743G>C

1 paper

NM_005353.3

p.R246*

c.736C>T

1 paper

NM_005353.3

p.K242N

c.726G>C

1 paper

NM_005353.3

p.K242N

c.726G>T

1 paper

NM_005353.3

p.H289H

c.867C>T

1 paper

NM_005353.3

p.D316A

c.947A>C

1 paper

NM_005353.3

p.A320V

c.959C>T

1 paper

NM_005353.3

p.A320delins

c.959_960delinsTT

1 paper

NM_005353.3

p.K331R

c.992A>G

1 paper

NM_005353.3

p.G354G

c.1062C>G