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

3 papers

NM_002392.6

p.N334N

c.1002T>C

Surrounding Variants

1 paper

NM_002392.6

p.N334K

c.1002T>A

1 paper

NM_002392.6

p.N334K

c.1002T>G

1 paper

NM_002392.6

p.W335G

c.1003T>G

1 paper

NM_002392.6

p.W335Fs

c.1003delinsGAFs

1 paper

NM_002392.6

p.W335L

c.1004G>T

1 paper

NM_002392.6

p.L336F

c.1006C>T

1 paper

NM_002392.6

p.P337A

c.1009C>G

2 papers

NM_002392.6

p.P337S

c.1009C>T

1 paper

NM_002392.6

p.R332H

c.995G>A

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.P337L

c.1010C>T