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.S219G

c.655A>G

Surrounding Variants

1 paper

NM_002392.6

p.S218I

c.653G>T

4 papers

NM_002392.6

p.E220G

c.659A>G

1 paper

NM_002392.6

p.E220E

c.660A>G

1 paper

NM_002392.6

p.T222S

c.664A>T

1 paper

NM_002392.6

p.G223_N227del5

c.667_680del15

1 paper

NM_002392.6

p.G223R

c.667G>C

1 paper

NM_002392.6

p.E214V

c.641A>T

1 paper

NM_002392.6

p.T224P

c.670A>C

1 paper

NM_002392.6

p.T224A

c.670A>G

1 paper

NM_002392.6

p.T224S

c.670A>T

5 papers

NM_002392.6

p.C213Y

c.638G>A

1 paper

NM_002392.6

p.C213_E214insT

c.637_641ins3