Varaico: Literature-Extracted Genetic Variants

ITGA6

246 papers

RefSeq Summary

The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surfa...

Pfam Domains

FG-GAPaa 316–354UCSCFG-GAP repeat

FG-GAPaa 355–393UCSCFG-GAP repeat

FG-GAPaa 383–410UCSCFG-GAP repeat

FG-GAPaa 422–449UCSCFG-GAP repeat

Gene Aliases

HGNC Name

integrin subunit alpha 6

HGNC Alias Symbols

CD49f; VLA-6; ITGA6A; ITGA6B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000210.4

p.S264delFs

c.791delC

Surrounding Variants

1 paper

NM_000210.4

p.S264T

c.790T>A

1 paper

NM_000210.4

p.G265insFs

c.794dupG

1 paper

NM_000210.4

p.G259G

c.777T>A

1 paper

NM_000210.4

p.I268T

c.803T>C

1 paper

NM_001316306.2

p.V150G

c.449T>G

2 papers

NM_000210.4

p.S270delFs

c.809delC

1 paper

NM_000210.4

p.G279A

c.836G>C

1 paper

NM_000210.4

p.P281T

c.841C>A

1 paper

NM_000210.4

p.P281L

c.842C>T

1 paper

NM_000210.4

p.R282G

c.844A>G

1 paper

NM_001316306.2

p.L173_R175del0

c.517_525del9

1 paper

NM_000210.4

p.E304*

c.910G>T