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

2 papers

NM_000210.4

p.K222N

c.666G>C

Surrounding Variants

2 papers

NM_000210.4

p.K222N

c.666G>T

1 paper

NM_000210.4

p.N224_F227del4

c.670_680del12

1 paper

NM_000210.4

p.Q221*

c.661C>T

1 paper

NM_000210.4

p.T225fs

c.673_674fs

1 paper

NM_000210.4

p.E220Q

c.658G>C

1 paper

NM_000210.4

p.E220delFs

c.658delG

1 paper

NM_000210.4

p.F226insFs

c.676_677insC

2 papers

NM_000210.4

p.V219I

c.655G>A

1 paper

NM_000210.4

p.R218H

c.653G>A

2 papers

NM_000210.4

p.R218C

c.652C>T

1 paper

NM_000210.4

p.N230T

c.689A>C

1 paper

NM_000210.4

p.F232Y

c.695T>A