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.S172R

c.514A>C

Surrounding Variants

1 paper

NM_002392.6

p.I171I

c.513T>A

1 paper

NM_002392.6

p.S172R

c.516T>A

1 paper

NM_002392.6

p.S172R

c.516T>G

1 paper

NM_002392.6

p.I171V

c.511A>G

3 papers

NM_002392.6

p.A170V

c.509C>T

1 paper

NM_002392.6

p.R169I

c.506G>T

4 papers

NM_002392.6

p.R167G

c.499A>G

2 papers

NM_002392.6

p.S166F

c.497C>T

3 papers

NM_002392.6

p.S166P

c.496T>C

7 papers

NM_002392.6

p.S166A

c.496T>G

1 paper

NM_002392.6

p.S165L

c.494C>T

1 paper

NM_002392.6

p.S163C

c.488C>G