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.Q423_V424Splc

c.1269+17G>C

Surrounding Variants

1 paper

NM_000210.4

p.T419S

c.1255A>T

1 paper

NM_000210.4

p.A414_I417delFs

c.1240_1249del10

1 paper

NM_000210.4

p.V381delFs

c.1141delG

10 papers

NM_000210.4

p.A380T

c.1138G>A

1 paper

NM_000210.4

p.M376V

c.1126A>G

1 paper

NM_000210.4

p.N370S

c.1109A>G

1 paper

NM_000210.4

p.R368H

c.1103G>A

1 paper

NM_000210.4

p.S429*

c.1286C>A

1 paper

NM_000210.4

p.S429*

c.1286C>G

1 paper

NM_000210.4

p.G433E

c.1298G>A

1 paper

NM_000210.4

p.E346Q

c.1036G>C

1 paper

NM_000210.4

p.D342V

c.1025A>T