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.D367A

c.1100A>C

Surrounding Variants

1 paper

NM_002392.6

p.D367_C368insT

c.1099_1103ins3

1 paper

NM_002392.6

p.D367E

c.1101T>A

1 paper

NM_002392.6

p.D367E

c.1101T>G

1 paper

NM_002392.6

p.P366L

c.1097C>T

1 paper

NM_002392.6

p.T371insFs

c.1111dupA

1 paper

NM_002392.6

p.K369fs

c.1105_1106fs

1 paper

NM_002392.6

p.K369R

c.1106A>G

1 paper

NM_002392.6

p.V365A

c.1094T>C

1 paper

NM_002392.6

p.K370R

c.1109A>G

1 paper

NM_002392.6

p.D364N

c.1090G>A

1 paper

NM_002392.6

p.T371A

c.1111A>G

1 paper

NM_002392.6

p.I372delFs

c.1115_1116delTA