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

2 papers

NM_002392.6

p.E210D

c.630G>T

Surrounding Variants

4 papers

NM_002392.6

p.E210D

c.630G>C

1 paper

NM_002392.6

p.I211T

c.632T>C

1 paper

NM_002392.6

p.I211I

c.633A>T

1 paper

NM_002392.6

p.R209S

c.627G>C

3 papers

NM_002392.6

p.R209K

c.626G>A

4 papers

NM_002392.6

p.R209fs

c.625_626fs

1 paper

NM_002392.6

p.R209_E210insG

c.625_629ins3

1 paper

NM_002392.6

p.R209fs

c.625_626fs

1 paper

NM_002392.6

p.C213_E214insT

c.637_641ins3

5 papers

NM_002392.6

p.C213Y

c.638G>A

1 paper

NM_002392.6

p.V207E

c.620T>A

1 paper

NM_002392.6

p.E214V

c.641A>T