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.*498*

c.1494G>A

Surrounding Variants

2 papers

NM_002392.6

p.*498Q

c.1492T>C

1 paper

NM_001145340.3

p.T292_Y293insT

c.874_878ins3

1 paper

NM_001145339.2

p.L438delFs

c.1312delC

1 paper

NM_002392.6

p.P482S

c.1444C>T

1 paper

NM_002392.6

p.K479insFs

c.1435dupA

1 paper

NM_002392.6

p.K475N

c.1425G>C

1 paper

NM_002392.6

p.K475N

c.1425G>T

1 paper

NM_001278462.2

p.K299insFs

c.895_896insT

1 paper

NM_002392.6

p.L474V

c.1420C>G

1 paper

NM_002392.6

p.C470Y

c.1409G>A

1 paper

NM_001145340.3

p.C268insFs

c.802_803insT

1 paper

NM_001278462.2

p.F292_T293insT

c.874_878ins3