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

3 papers

NM_000885.6

p.D408E

c.1224T>A

Surrounding Variants

3 papers

NM_000885.6

p.D408E

c.1224T>G

1 paper

NM_000885.6

p.S411S

c.1233G>A

1 paper

NM_000885.6

p.S415S

c.1245A>C

1 paper

NM_000885.6

p.I434V

c.1300A>G

1 paper

NM_000885.6

p.R454W

c.1360C>T

1 paper

NM_000885.6

p.D456Y

c.1366G>T

1 paper

NM_000885.6

p.R464K

c.1391G>A

1 paper

NM_000885.6

p.P476T

c.1426C>A

1 paper

NM_000885.6

p.C495C

c.1485C>T

1 paper

NM_000885.6

p.Y504H

c.1510T>C

1 paper

NM_000885.6

p.E528Q

c.1582G>C

1 paper

NM_000885.6

p.P531Q

c.1592C>A