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

1 paper

NM_000210.4

p.R596*

c.1786C>T

Surrounding Variants

1 paper

NM_000210.4

p.P601Q

c.1802C>A

1 paper

NM_000210.4

p.V603L

c.1807G>C

1 paper

NM_000210.4

p.V603F

c.1807G>T

2 papers

NM_000210.4

p.I588I

c.1764C>T

2 papers

NM_000210.4

p.Q570_D571Splc

c.1710+1G>T

2 papers

NM_000210.4

p.M563insFs

c.1688dupT

1 paper

NM_000210.4

p.M563V

c.1687A>G

2 papers

NM_000210.4

p.M563fs

c.1687_1688fs

4 papers

NM_000210.4

p.C562R

c.1684T>C

7 papers

NM_000210.4

p.R540*

c.1618C>T

1 paper

NM_000210.4

p.R536G

c.1606A>G

1 paper

NM_000210.4

p.L533L

c.1599A>G