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

6 papers

NM_002392.6

p.S23A

c.67T>G

Surrounding Variants

1 paper

NM_002392.6

p.S23*

c.68C>A

1 paper

NM_002392.6

p.T22T

c.66C>G

1 paper

NM_002392.6

p.S23*

c.68C>G

1 paper

NM_002392.6

p.T22I

c.65C>T

4 papers

NM_002392.6

p.Q24R

c.71A>G

1 paper

NM_002392.6

p.T21T

c.63C>A

1 paper

NM_002392.6

p.T21T

c.63C>T

2 papers

NM_002392.6

p.Q24H

c.72G>C

1 paper

NM_002392.6

p.T21A

c.61A>G

1 paper

NM_002392.6

p.I25N

c.74T>A

1 paper

NM_002392.6

p.I25insFs

c.74_75insAC

1 paper

NM_002392.6

p.V20E

c.59T>A