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

2 papers

NM_002393.5

p.V371I

c.1111G>A

Surrounding Variants

1 paper

NM_002393.5

p.V370F

c.1108G>T

1 paper

NM_002393.5

p.P369R

c.1106C>G

1 paper

NM_002393.5

p.P369S

c.1105C>T

1 paper

NM_002393.5

p.P373S

c.1117C>T

8 papers

NM_002393.5

p.K374Q

c.1120A>C

1 paper

NM_002393.5

p.A368P

c.1102G>C

13 papers

NM_002393.5

p.S367L

c.1100C>T

1 paper

NM_002393.5

p.D375fs

c.1123_1124fs

7 papers

NM_002393.5

p.S367A

c.1099T>G

1 paper

NM_001278519.2

p.I143delFs

c.428delT

1 paper

NM_002393.5

p.A376V

c.1127C>T

1 paper

NM_002393.5

p.Y377insFs

c.1129_1130insCG