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.D246E

c.738T>A

Surrounding Variants

1 paper

NM_000210.4

p.D246E

c.738T>G

2 papers

NM_000210.4

p.E247*

c.739G>T

1 paper

NM_000210.4

p.E247D

c.741A>C

1 paper

NM_000210.4

p.E247D

c.741A>T

1 paper

NM_000210.4

p.L249I

c.745C>A

1 paper

NM_000210.4

p.V250G

c.749T>G

1 paper

NM_000210.4

p.P251L

c.752C>T

1 paper

NM_000210.4

p.A254S

c.760G>T

3 papers

NM_000210.4

p.E238A

c.713A>C

1 paper

NM_000210.4

p.Y237S

c.710A>C

1 paper

NM_000210.4

p.Y237C

c.710A>G

1 paper

NM_000210.4

p.Y257F

c.770A>T