Varaico: Literature-Extracted Genetic Variants

MDM4

428 papers

RefSeq Summary

This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both p...

Pfam Domains

SWIBaa 25–95UCSCSWIB/MDM2 domain

Zn_ribbon_RanBPaa 202–231UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 300–329UCSCZn-finger in Ran binding protein and others

zf-C3HC4_3aa 336–386UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

MDM4 regulator of p53

HGNC Alias Symbols

MDMX; HDMX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002393.5

p.R466I

c.1397G>T

Surrounding Variants

1 paper

NM_002393.5

p.R465K

c.1394G>A

1 paper

NM_002393.5

p.K468E

c.1402A>G

1 paper

NM_002393.5

p.K468K

c.1404G>A

1 paper

NM_002393.5

p.K469M

c.1406A>T

1 paper

NM_002393.5

p.A472T

c.1414G>A

1 paper

NM_002393.5

p.T459I

c.1376C>T

1 paper

NM_002393.5

p.T459A

c.1375A>G

2 papers

NM_002393.5

p.L457V

c.1369C>G

1 paper

NM_002393.5

p.G455D

c.1364G>A

4 papers

NM_002393.5

p.K478R

c.1433A>G

5 papers

NM_002393.5

p.T454M

c.1361C>T

1 paper

NM_002393.5

p.K479insFs

c.1435dupA