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

2 papers

NM_000885.6

p.S1021G

c.3061A>G

Surrounding Variants

1 paper

NM_000885.6

p.W1022_S1023insT

c.3064_3068ins3

1 paper

NM_000885.6

p.N1017_R1018del2

c.3049_3053del6

1 paper

NM_000885.6

p.S1027I

c.3080G>T

1 paper

NM_000885.6

p.I1012_L1013insT

c.3034_3038ins3

1 paper

NM_000885.6

p.D1031Y

c.3091G>T

1 paper

NM_000885.6

p.F1004F

c.3012C>T

1 paper

NM_000885.6

p.F1004del1

c.3010_3011delTTC

1 paper

NM_000885.6

p.T977_I978insC

c.2929_2933ins3

1 paper

NM_000885.6

p.T977_L989del13

c.2929_2966del39

1 paper

NM_000885.6

p.R974H

c.2921G>A

1 paper

NM_000885.6

p.H968Y

c.2902C>T

1 paper

NM_000885.6

p.H961H

c.2883T>C