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.P56L

c.167C>T

Surrounding Variants

1 paper

NM_000210.4

p.K59T

c.176A>C

4 papers

NM_000210.4

p.M50V

c.148A>G

1 paper

NM_000210.4

p.L61Splc

c.182+11A>G

7 papers

NM_000210.4

p.S47L

c.140C>T

1 paper

NM_000210.4

p.L61Splc

c.182+15C>T

1 paper

NM_000210.4

p.S42delFs

c.124_125delAG

1 paper

NM_000210.4

p.L61Splc

c.182+30T>C

1 paper

NM_000210.4

p.K36Q

c.106A>C

1 paper

NM_000210.4

p.D27Y

c.79G>T

1 paper

NM_000210.4

p.N25K

c.75C>A

1 paper

NM_000210.4

p.N25K

c.75C>G

1 paper

NM_000210.4

p.N25N

c.75C>T