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

4 papers

NM_002393.5

p.S314A

c.940T>G

Surrounding Variants

1 paper

NM_001278519.2

p.F89fs

c.265_266fs

NM_001204171.2

p.F262fs

c.784_785fs

NM_002393.5

p.F312fs

c.934_935fs

NM_001278517.2

p.F214fs

c.640_641fs

2 papers

NM_002393.5

p.K310N

c.930G>C

1 paper

NM_001204171.2

p.K261insFs

c.783dupA

NM_001278517.2

p.K213insFs

c.639dupA

NM_002393.5

p.K311insFs

c.933dupA

NM_001278519.2

p.K88insFs

c.264dupA

1 paper

NM_002393.5

p.K311insFs

c.931_932ins4

2 papers

NM_002393.5

p.K310N

c.930G>T

1 paper

NM_002393.5

p.R318S

c.954G>C

1 paper

NM_002393.5

p.R318S

c.954G>T

1 paper

NM_002393.5

p.Y319C

c.956A>G

1 paper

NM_002393.5

p.F321insFs

c.963dupT

1 paper

NM_002393.5

p.C306Y

c.917G>A

1 paper

NM_002393.5

p.R322fs

c.964_965fs

2 papers

NM_002393.5

p.R322C

c.964C>T