Varaico: Literature-Extracted Genetic Variants

MDM2

1,400 papers

RefSeq Summary

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene i...

Pfam Domains

SWIBaa 33–108UCSCSWIB/MDM2 domain

Zn_ribbon_RanBPaa 250–279UCSCZn-finger in Ran binding protein and others

zf-C3HC4_3aa 385–436UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

MDM2 proto-oncogene

HGNC Alias Symbols

HDM2; MGC5370

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002392.6

p.W329C

c.987G>C

Surrounding Variants

1 paper

NM_002392.6

p.W329C

c.987G>T

1 paper

NM_002392.6

p.W329S

c.986G>C

2 papers

NM_002392.6

p.W329L

c.986G>T

2 papers

NM_002392.6

p.W329G

c.985T>G

1 paper

NM_002392.6

p.L331F

c.991C>T

1 paper

NM_002392.6

p.R332_P337del0

c.994_1011del18

1 paper

NM_002392.6

p.R327S

c.981A>T

1 paper

NM_002392.6

p.R332insFs

c.995_996insG

3 papers

NM_002392.6

p.R332C

c.994C>T

1 paper

NM_002392.6

p.R332H

c.995G>A

1 paper

NM_002392.6

p.N334K

c.1002T>A

3 papers

NM_002392.6

p.N334N

c.1002T>C