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

23 papers

NM_002392.6

p.R5Splc

c.14+309T>G

Surrounding Variants

1 paper

NM_002392.6

p.R5Splc

c.15-401G>C

1 paper

NM_002392.6

p.R5Splc

c.14+288G>C

3 papers

NM_002392.6

p.R5Splc

c.14+285G>C

1 paper

NM_002392.6

p.R5Splc

c.14+344T>A

1 paper

NM_002392.6

p.R5Splc

c.14+55C>T

1 paper

NM_002392.6

p.R5S

c.15G>C

1 paper

NM_002392.6

p.R5S

c.15G>T

1 paper

NM_002392.6

p.S4R

c.12C>G

1 paper

NM_002392.6

p.S4T

c.11G>C

1 paper

NM_002392.6

p.S4G

c.10A>G

2 papers

NM_002392.6

p.R3R

c.9G>A

1 paper

NM_002392.6

p.R3K

c.8G>A