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.I195L

c.583A>C

Surrounding Variants

1 paper

NM_002392.6

p.I195F

c.583A>T

7 papers

NM_002392.6

p.I195T

c.584T>C

1 paper

NM_002392.6

p.S194S

c.582T>C

1 paper

NM_002392.6

p.S196F

c.587C>T

2 papers

NM_002392.6

p.D193G

c.578A>G

1 paper

NM_002392.6

p.L197F

c.589C>T

1 paper

NM_002392.6

p.L197P

c.590T>C

1 paper

NM_002392.6

p.S192T

c.574T>A

1 paper

NM_002392.6

p.D200N

c.598G>A

3 papers

NM_002392.6

p.R189H

c.566G>A

1 paper

NM_002392.6

p.R189insFs

c.566_567insA

1 paper

NM_002392.6

p.R189C

c.565C>T