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.E31K

c.91G>A

Surrounding Variants

1 paper

NM_002392.6

p.E31insFs

c.92_93insAC

1 paper

NM_002392.6

p.Q30H

c.90A>C

1 paper

NM_002392.6

p.E31D

c.93G>C

1 paper

NM_002392.6

p.E31D

c.93G>T

4 papers

NM_002392.6

p.T32A

c.94A>G

1 paper

NM_002392.6

p.T32fs

c.94_95fs

1 paper

NM_002392.6

p.E29A

c.86A>C

20 papers

NM_002392.6

p.L33R

c.98T>G

1 paper

NM_002392.6

p.A27G

c.80C>G

1 paper

NM_002392.6

p.A27V

c.80C>T

1 paper

NM_002392.6

p.A27delFs

c.80delC

1 paper

NM_002392.6

p.P26Q

c.77C>A