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.Y55F

c.164A>T

Surrounding Variants

1 paper

NM_002393.5

p.H54D

c.160C>G

4 papers

NM_002393.5

p.G57A

c.170G>C

1 paper

NM_002393.5

p.M53L

c.157A>C

1 paper

NM_002393.5

p.M53V

c.157A>G

1 paper

NM_002393.5

p.M53L

c.157A>T

1 paper

NM_002393.5

p.G57G

c.171T>A

1 paper

NM_002393.5

p.Q58*

c.172C>T

1 paper

NM_002393.5

p.V62L

c.184G>C

1 paper

NM_002393.5

p.V62L

c.184G>T

1 paper

NM_002393.5

p.V62G

c.185T>G

1 paper

NM_002393.5

p.K63N

c.189G>T

2 papers

NM_002393.5

p.Q69*

c.205C>T