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

1–12 of 243 variants

10 papers

NM_000210.4

p.A380T

c.1138G>A

7 papers

NM_000210.4

p.S47L

c.140C>T

7 papers

NM_000210.4

p.K127M

c.380A>T

7 papers

NM_000210.4

p.R540*

c.1618C>T

6 papers

NM_000210.4

p.S264delFs

c.791delC

4 papers

NM_000210.4

p.M1insFs

c.2dupT

4 papers

NM_000210.4

p.M50V

c.148A>G

4 papers

NM_000210.4

p.V129_T130Splc

c.388-5T>G

4 papers

NM_000210.4

p.C562R

c.1684T>C

3 papers

NM_000210.4

p.R96W

c.286C>T

3 papers

NM_000210.4

p.E238A

c.713A>C

3 papers

NM_000210.4

p.R835_V836Splc

c.2506-1G>C