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

3 papers

NM_000210.4

p.R835_V836Splc

c.2506-1G>C

Surrounding Variants

2 papers

NM_000210.4

p.L846L

c.2538C>T

1 paper

NM_000210.4

p.N852D

c.2554A>G

1 paper

NM_000210.4

p.Q854*

c.2560C>T

1 paper

NM_000210.4

p.I859delFs

c.2576delT

2 papers

NM_000210.4

p.V871A

c.2612T>C

1 paper

NM_001316306.2

p.G756R

c.2266G>A

1 paper

NM_001316306.2

p.Q765_E767delFs

c.2294_2300del7

1 paper

NM_000210.4

p.T893_E894Splc

c.2679+4T>G

1 paper

NM_000210.4

p.T893_E894Splc

c.2679+6T>G

1 paper

NM_000210.4

p.D824insFs

c.2470_2471insG

2 papers

NM_000210.4

p.M820I

c.2460G>A

2 papers

NM_000210.4

p.M820I

c.2460G>C