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

2 papers

NM_002392.6

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_002392.6

p.M1K

c.2T>A

1 paper

NM_002392.6

p.M1ins1

c.1_2insCTT

1 paper

NM_002392.6

p.M1insFs

c.2_3insT

1 paper

NM_002392.6

p.M1L

c.1A>C

1 paper

NM_002392.6

p.M1V

c.1A>G

2 papers

NM_002392.6

p.M1I

c.3G>A

1 paper

NM_002392.6

p.M1_V2insFs

c.3_4insA

1 paper

NM_002392.6

p.M1I

c.3G>T

2 papers

NM_002392.6

p.V2M

c.4G>A

1 paper

NM_002392.6

p.V2L

c.4G>C

6 papers

NM_002392.6

p.V2L

c.4G>T

1 paper

NM_002392.6

p.R3K

c.8G>A