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

1 paper

NM_005353.3

p.T451T

c.1353G>A

Surrounding Variants

1 paper

NM_005353.3

p.T451S

c.1351A>T

1 paper

NM_005353.3

p.A446S

c.1336G>T

1 paper

NM_005353.3

p.K444R

c.1331A>G

1 paper

NM_005353.3

p.Q427R

c.1280A>G

1 paper

NM_005353.3

p.A423insFs

c.1268dupC

2 papers

NM_005353.3

p.A423fs

c.1267_1268fs

1 paper

NM_005353.3

p.A423S

c.1267G>T

1 paper

NM_005353.3

p.L421L

c.1263G>T

1 paper

NM_005353.3

p.K414*

c.1240A>T

1 paper

NM_005353.3

p.D473N

c.1417G>A

1 paper

NM_005353.3

p.H481fs

c.1441_1442fs

1 paper

NM_005353.3

p.H481L

c.1442A>T