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.E233Q

c.697G>C

Surrounding Variants

1 paper

NM_000210.4

p.E233D

c.699A>C

1 paper

NM_000210.4

p.F232Y

c.695T>A

1 paper

NM_000210.4

p.D234N

c.700G>A

1 paper

NM_000210.4

p.D234G

c.701A>G

1 paper

NM_000210.4

p.G235E

c.704G>A

1 paper

NM_000210.4

p.N230T

c.689A>C

1 paper

NM_000210.4

p.Y237S

c.710A>C

1 paper

NM_000210.4

p.Y237C

c.710A>G

3 papers

NM_000210.4

p.E238A

c.713A>C

1 paper

NM_000210.4

p.F226insFs

c.676_677insC

1 paper

NM_000210.4

p.T225fs

c.673_674fs

1 paper

NM_000210.4

p.N224_F227del4

c.670_680del12