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.C334S

c.1000T>A

Surrounding Variants

1 paper

NM_002393.5

p.C334S

c.1001G>C

1 paper

NM_002393.5

p.S335Fs

c.1003delinsGAFs

1 paper

NM_002393.5

p.K336insFs

c.1006_1007insCT

1 paper

NM_002393.5

p.K336R

c.1007A>G

1 paper

NM_002393.5

p.K336N

c.1008G>C

1 paper

NM_002393.5

p.K336N

c.1008G>T

1 paper

NM_002393.5

p.T338T

c.1014C>A

4 papers

NM_002393.5

p.S342A

c.1024T>G

1 paper

NM_002393.5

p.T343S

c.1027A>T

1 paper

NM_002393.5

p.S344Y

c.1031C>A

1 paper

NM_002393.5

p.D345N

c.1033G>A

1 paper

NM_002393.5

p.R322fs

c.964_965fs