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.I701M

c.2103T>G

Surrounding Variants

1 paper

NM_000210.4

p.P705L

c.2114C>T

1 paper

NM_000210.4

p.T707A

c.2119A>G

2 papers

NM_000210.4

p.D694D

c.2082C>T

1 paper

NM_000210.4

p.G692G

c.2076C>T

1 paper

NM_000210.4

p.A712A

c.2136A>T

1 paper

NM_000210.4

p.P688S

c.2062C>T

1 paper

NM_000210.4

p.R686K

c.2057G>A

2 papers

NM_000210.4

p.P720_E721Splc

c.2160+1G>T

1 paper

NM_000210.4

p.K667E

c.1999A>G

1 paper

NM_000210.4

p.P720_E721Splc

c.2161-1G>A

1 paper

NM_000210.4

p.A728delFs

c.2184delC

1 paper

NM_000210.4

p.C737Y

c.2210G>A