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

9 papers

NM_000885.6

p.R878Q

c.2633G>A

Surrounding Variants

1 paper

NM_000885.6

p.T848A

c.2542A>G

1 paper

NM_000885.6

p.V824A

c.2471T>C

1 paper

NM_000885.6

p.E803G

c.2408A>G

1 paper

NM_000885.6

p.E796*

c.2386G>T

2 papers

NM_000885.6

p.G942delFs

c.2824delG

1 paper

NM_000885.6

p.G942V

c.2825G>T

1 paper

NM_000885.6

p.E945_P946insC

c.2833_2837ins3

1 paper

NM_000885.6

p.E952_L953insA

c.2854_2858ins3

1 paper

NM_000885.6

p.H961H

c.2883T>C

1 paper

NM_000885.6

p.H968Y

c.2902C>T

1 paper

NM_000885.6

p.R974H

c.2921G>A

1 paper

NM_000885.6

p.T977_L989del13

c.2929_2966del39