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.R153W

c.457C>T

Surrounding Variants

1 paper

NM_000210.4

p.R153Q

c.458G>A

1 paper

NM_000210.4

p.I150S

c.449T>G

1 paper

NM_000210.4

p.R148*

c.442C>T

2 papers

NM_000210.4

p.S147F

c.440C>T

2 papers

NM_000210.4

p.T143M

c.428C>T

1 paper

NM_000210.4

p.N142S

c.425A>G

1 paper

NM_000210.4

p.H140L

c.419A>T

1 paper

NM_000210.4

p.M167V

c.499A>G

1 paper

NM_000210.4

p.Q139*

c.415C>T

1 paper

NM_000210.4

p.G169W

c.505G>T

1 paper

NM_000210.4

p.S173_C175del0

c.517_525del9

1 paper

NM_000210.4

p.A132D

c.395C>A