Varaico: Literature-Extracted Genetic Variants

ITGA4

153 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 306–342UCSCFG-GAP repeat

FG-GAPaa 368–403UCSCFG-GAP repeat

Integrin_A_Ig_1aa 463–621UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 622–770UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 776–966UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 4

HGNC Previous Symbol

CD49D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000885.6

p.L22P

c.65T>C

Surrounding Variants

1 paper

NM_000885.6

p.V20L

c.58G>C

1 paper

NM_000885.6

p.E8A

c.23A>C

1 paper

NM_000885.6

p.E8K

c.22G>A

1 paper

NM_000885.6

p.W3R

c.7T>A

1 paper

NM_000885.6

p.W3R

c.7T>C

1 paper

NM_000885.6

p.G46D

c.137G>A

1 paper

NM_000885.6

p.F52fs

c.154_155fs

1 paper

NM_000885.6

p.S55T

c.163T>A

1 paper

NM_000885.6

p.H61Y

c.181C>T

1 paper

NM_000885.6

p.W66R

c.196T>A

1 paper

NM_000885.6

p.W66R

c.196T>C

1 paper

NM_000885.6

p.L67fs

c.199_200fs