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.C750Splc

c.2249+6A>G

Surrounding Variants

1 paper

NM_000885.6

p.A738A

c.2214G>A

1 paper

NM_000885.6

p.L730V

c.2188C>G

1 paper

NM_000885.6

p.D719H

c.2155G>C

1 paper

NM_000885.6

p.Q695E

c.2083C>G

1 paper

NM_000885.6

p.H779Y

c.2335C>T

1 paper

NM_000885.6

p.G780Splc

c.2339+1G>A

1 paper

NM_000885.6

p.Y684H

c.2050T>C

1 paper

NM_000885.6

p.L683H

c.2048T>A

1 paper

NM_000885.6

p.P680T

c.2038C>A

1 paper

NM_000885.6

p.A670E

c.2009C>A

1 paper

NM_000885.6

p.M658L

c.1972A>C

1 paper

NM_000885.6

p.M658L

c.1972A>T