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.V64L

c.190G>T

Surrounding Variants

1 paper

NM_000210.4

p.V64L

c.190G>C

1 paper

NM_000210.4

p.A66T

c.196G>A

1 paper

NM_000210.4

p.P67L

c.200C>T

1 paper

NM_000210.4

p.R68G

c.202C>G

1 paper

NM_000210.4

p.E70K

c.208G>A

1 paper

NM_000210.4

p.Q75_R76delFs

c.224_227del4

1 paper

NM_000210.4

p.R76K

c.227G>A

1 paper

NM_000210.4

p.Y84F

c.251A>T

1 paper

NM_000210.4

p.T89A

c.265A>G

1 paper

NM_000210.4

p.G92R

c.274G>A

1 paper

NM_000210.4

p.G92R

c.274G>C

3 papers

NM_000210.4

p.R96W

c.286C>T