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.V20E

c.59T>A

Surrounding Variants

9 papers

NM_002392.6

p.V20I

c.58G>A

1 paper

NM_002392.6

p.T21A

c.61A>G

1 paper

NM_002392.6

p.V20del1

c.58_59delGTA

1 paper

NM_002392.6

p.V20delFs

c.58_59delGT

1 paper

NM_002392.6

p.T21T

c.63C>A

1 paper

NM_002392.6

p.T21T

c.63C>T

1 paper

NM_002392.6

p.A19T

c.55G>A

1 paper

NM_002392.6

p.T22I

c.65C>T

1 paper

NM_002392.6

p.T22T

c.66C>G

1 paper

NM_002392.6

p.G18S

c.52G>A

6 papers

NM_002392.6

p.S23A

c.67T>G

1 paper

NM_002392.6

p.S23*

c.68C>A