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

1–12 of 339 variants

13 papers

NM_002393.5

p.S367L

c.1100C>T

11 papers

NM_002393.5

p.P388A

c.1162C>G

8 papers

NM_002393.5

p.K374Q

c.1120A>C

7 papers

NM_002393.5

p.S367A

c.1099T>G

6 papers

NM_002393.5

p.D153G

c.458A>G

5 papers

NM_002393.5

p.S11*

c.32C>A

5 papers

NM_002393.5

p.T454M

c.1361C>T

4 papers

NM_002393.5

p.I19M

c.57C>G

4 papers

NM_002393.5

p.G57A

c.170G>C

4 papers

NM_002393.5

p.S314A

c.940T>G

4 papers

NM_002393.5

p.S342A

c.1024T>G

4 papers

NM_002393.5

p.K478R

c.1433A>G