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.M1_A2delFs

c.3_6del4

Surrounding Variants

1 paper

NM_000210.4

p.M1K

c.2T>A

1 paper

NM_000210.4

p.M1T

c.2T>C

4 papers

NM_000210.4

p.M1insFs

c.2dupT

1 paper

NM_000210.4

p.M1L

c.1A>T

1 paper

NM_000210.4

p.A3_Q6del4

c.7_17del12

2 papers

NM_000210.4

p.A4T

c.10G>A

1 paper

NM_000210.4

p.A4V

c.11C>T

1 paper

NM_000210.4

p.A4A

c.12C>A

1 paper

NM_000210.4

p.L7R

c.20T>G

1 paper

NM_000210.4

p.L12L

c.34C>T

1 paper

NM_000210.4

p.L20_F24delFs

c.58_70del13

1 paper

NM_000210.4

p.A22A

c.66A>T