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_001316306.2

p.L677L

c.2031T>G

Surrounding Variants

1 paper

NM_000210.4

p.A803S

c.2407G>T

1 paper

NM_000210.4

p.S806C

c.2417C>G

2 papers

NM_000210.4

p.M820I

c.2460G>A

2 papers

NM_000210.4

p.M820I

c.2460G>C

2 papers

NM_000210.4

p.M820I

c.2460G>T

1 paper

NM_000210.4

p.D824insFs

c.2470_2471insG

1 paper

NM_000210.4

p.E774G

c.2321A>G

1 paper

NM_000210.4

p.K772N

c.2316G>C

1 paper

NM_000210.4

p.K772N

c.2316G>T

1 paper

NM_000210.4

p.D766Y

c.2296G>T

1 paper

NM_000210.4

p.P765_L767delFs

c.2294_2300del7

1 paper

NM_000210.4

p.C737Y

c.2210G>A