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.L181*

c.542T>G

Surrounding Variants

1 paper

NM_002392.6

p.L181*

c.542T>A

1 paper

NM_002392.6

p.S182F

c.545C>T

2 papers

NM_002392.6

p.E180K

c.538G>A

1 paper

NM_002392.6

p.E180*

c.538G>T

1 paper

NM_002392.6

p.E180fs

c.538_539fs

2 papers

NM_002392.6

p.D179G

c.536A>G

1 paper

NM_002392.6

p.D179Y

c.535G>T

1 paper

NM_002392.6

p.E184_R185delFs

c.552_555del4

1 paper

NM_002392.6

p.R185*

c.553C>T

1 paper

NM_001145339.2

p.S123insFs

c.367_368insT

1 paper

NM_002392.6

p.E175E

c.525A>G

1 paper

NM_002392.6

p.R187I

c.560G>T