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.E903K

c.2707G>A

Surrounding Variants

2 papers

NM_000210.4

p.R902W

c.2704C>T

1 paper

NM_000210.4

p.D911H

c.2731G>C

1 paper

NM_000210.4

p.S916fs

c.2746_2747fs

1 paper

NM_000210.4

p.P940S

c.2818C>T

1 paper

NM_000210.4

p.P940L

c.2819C>T

1 paper

NM_000210.4

p.A948delFs

c.2842delG

1 paper

NM_000210.4

p.A948insFs

c.2843_2844dupCG

1 paper

NM_000210.4

p.S949fs

c.2845_2846fs

1 paper

NM_000210.4

p.S954L

c.2861C>T

1 paper

NM_000210.4

p.S966F

c.2897C>T

2 papers

NM_001316306.2

p.R857*

c.2569C>T

NM_000210.4

p.R976*

c.2926C>T

1 paper

NM_001316306.2

p.F859delFs

c.2576delT