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.P320L

c.959C>T

Surrounding Variants

1 paper

NM_002392.6

p.P320S

c.958C>T

2 papers

NM_002392.6

p.L321F

c.961C>T

1 paper

NM_002392.6

p.L321fs

c.961_962fs

2 papers

NM_002392.6

p.P319fs

c.955_956fs

1 paper

NM_002392.6

p.P319A

c.955C>G

2 papers

NM_002392.6

p.P319S

c.955C>T

1 paper

NM_002392.6

p.P322fs

c.964_965fs

2 papers

NM_002392.6

p.P319delFs

c.955delC

1 paper

NM_001145339.2

p.N263fs

c.787_788fs

1 paper

NM_001145339.2

p.S268insFs

c.802_803insT

3 papers

NM_002392.6

p.S323L

c.968C>T

1 paper

NM_001145340.3

p.C123insFs

c.367_368insT