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

1–12 of 111 variants

3 papers

NM_005353.3

p.A586V

c.1757C>T

2 papers

NM_005353.3

p.R206W

c.616C>T

2 papers

NM_005353.3

p.R282C

c.844C>T

2 papers

NM_005353.3

p.A423fs

c.1267_1268fs

2 papers

NM_005353.3

p.A986V

c.2957C>T

1 paper

NM_005353.3

p.L8fs

c.22_23fs

1 paper

NM_005353.3

p.G17insFs

c.51dupA

1 paper

NM_005353.3

p.F18fs

c.52_53fs

1 paper

NM_005353.3

p.F42L

c.124T>C

1 paper

NM_005353.3

p.F42L

c.126C>A

1 paper

NM_005353.3

p.F42L

c.126C>G

1 paper

NM_005353.3

p.R46Splc

c.137+6C>T