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

5 papers

NM_002393.5

p.S11*

c.32C>A

Surrounding Variants

1 paper

NM_002393.5

p.T12S

c.34A>T

1 paper

NM_002393.5

p.C10S

c.29G>C

1 paper

NM_002393.5

p.C10S

c.28T>A

1 paper

NM_002393.5

p.S13F

c.38C>T

2 papers

NM_002393.5

p.Q9K

c.25C>A

1 paper

NM_002393.5

p.A8T

c.22G>A

1 paper

NM_002393.5

p.A8S

c.22G>T

1 paper

NM_002393.5

p.A8insFs

c.22dupG

1 paper

NM_002393.5

p.S7F

c.20C>T

2 papers

NM_002393.5

p.C17S

c.49T>A

1 paper

NM_002393.5

p.S5F

c.14C>T

2 papers

NM_002393.5

p.C17S

c.50G>C