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.T10I

c.29C>T

Surrounding Variants

1 paper

NM_002392.6

p.T10N

c.29C>A

1 paper

NM_002392.6

p.T10insFs

c.29_30insA

1 paper

NM_002392.6

p.T10P

c.28A>C

1 paper

NM_002392.6

p.N11T

c.32A>C

1 paper

NM_002392.6

p.N9insFs

c.26_27ins7

1 paper

NM_002392.6

p.N9Y

c.25A>T

4 papers

NM_002392.6

p.N11K

c.33C>A

1 paper

NM_002392.6

p.M12V

c.34A>G

1 paper

NM_002392.6

p.C8Y

c.23G>A

2 papers

NM_002392.6

p.C8G

c.22T>G

1 paper

NM_002392.6

p.M7Fs

c.21delinsACAGCFs

1 paper

NM_002392.6

p.C8insFs

c.22dupT