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.M297K

c.890T>A

Surrounding Variants

1 paper

NM_000885.6

p.H295Q

c.885T>A

1 paper

NM_000885.6

p.H295Q

c.885T>G

1 paper

NM_000885.6

p.I283K

c.848T>A

1 paper

NM_000885.6

p.S304L

c.911C>T

1 paper

NM_000885.6

p.Y305*

c.915C>G

1 paper

NM_000885.6

p.G307*

c.919G>T

1 paper

NM_000885.6

p.L315_N316insFs

c.945_946insC

1 paper

NM_000885.6

p.D318insFs

c.952_953insA

1 paper

NM_000885.6

p.G326_Q330delFs

c.977_989del13

1 paper

NM_000885.6

p.G326insFs

c.977_978insC

1 paper

NM_000885.6

p.M329fs

c.985_986fs

1 paper

NM_000885.6

p.R334*

c.1000A>T