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

7 papers

NM_000210.4

p.K127M

c.380A>T

Surrounding Variants

1 paper

NM_000210.4

p.G126D

c.377G>A

1 paper

NM_000210.4

p.G125R

c.373G>A

1 paper

NM_000210.4

p.G125R

c.373G>C

1 paper

NM_000210.4

p.V129V

c.387G>T

1 paper

NM_000210.4

p.P124_G125del2

c.370_374del6

1 paper

NM_000210.4

p.V129_T130Splc

c.387+14C>A

1 paper

NM_000210.4

p.M115delFs

c.343delA

1 paper

NM_000210.4

p.W114insFs

c.341dupG

1 paper

NM_000210.4

p.D112E

c.336T>A

1 paper

NM_000210.4

p.D112E

c.336T>G

1 paper

NM_000210.4

p.A103Splc

c.308-94G>A

4 papers

NM_000210.4

p.V129_T130Splc

c.388-5T>G