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.V114L

c.340G>C

Surrounding Variants

1 paper

NM_002392.6

p.V114fs

c.340_341fs

1 paper

NM_002392.6

p.V114L

c.340G>T

1 paper

NM_002392.6

p.V114delFs

c.341delT

1 paper

NM_002392.6

p.L113*

c.338T>A

7 papers

NM_002392.6

p.V115E

c.344T>A

1 paper

NM_002392.6

p.V116I

c.346G>A

3 papers

NM_002392.6

p.N117S

c.350A>G

1 paper

NM_002392.6

p.Y110Y

c.330C>T

2 papers

NM_002392.6

p.N117K

c.351T>A

1 paper

NM_002392.6

p.N117K

c.351T>G

1 paper

NM_002392.6

p.Y110fs

c.328_329fs

1 paper

NM_002392.6

p.Q118L

c.353A>T