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.S401A

c.1201T>G

Surrounding Variants

1 paper

NM_002393.5

p.S403delFs

c.1209delC

2 papers

NM_002393.5

p.A398V

c.1193C>T

1 paper

NM_002393.5

p.Q404*

c.1210C>T

1 paper

NM_002393.5

p.D396G

c.1187A>G

1 paper

NM_002393.5

p.T406I

c.1217C>T

1 paper

NM_002393.5

p.S391_E393delFs

c.1172_1179del8

3 papers

NM_002393.5

p.G411E

c.1232G>A

1 paper

NM_002393.5

p.E412K

c.1234G>A

1 paper

NM_002393.5

p.C389R

c.1165T>C

1 paper

NM_002393.5

p.Q413Q

c.1239G>A

11 papers

NM_002393.5

p.P388A

c.1162C>G

1 paper

NM_002393.5

p.L385L

c.1155T>G