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

1–12 of 139 variants

9 papers

NM_000885.6

p.R878Q

c.2633G>A

3 papers

NM_000885.6

p.D408E

c.1224T>A

3 papers

NM_000885.6

p.D408E

c.1224T>G

2 papers

NM_000885.6

p.R261W

c.781C>T

2 papers

NM_000885.6

p.R565W

c.1693C>T

2 papers

NM_000885.6

p.T615T

c.1845A>G

2 papers

NM_000885.6

p.G942delFs

c.2824delG

2 papers

NM_000885.6

p.S1021G

c.3061A>G

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.E8K

c.22G>A

1 paper

NM_000885.6

p.E8A

c.23A>C