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.E354D

c.1062A>T

Surrounding Variants

1 paper

NM_001145339.2

p.E299fs

c.895_896fs

1 paper

NM_001145339.2

p.E299insFs

c.895_896insT

1 paper

NM_002392.6

p.E354*

c.1060G>T

1 paper

NM_002392.6

p.Q358E

c.1072C>G

1 paper

NM_002392.6

p.Q358*

c.1072C>T

1 paper

NM_002392.6

p.A351delFs

c.1052delC

1 paper

NM_002392.6

p.A359V

c.1076C>T

1 paper

NM_002392.6

p.E349D

c.1047G>C

1 paper

NM_002392.6

p.E349D

c.1047G>T

1 paper

NM_002392.6

p.E349K

c.1045G>A

1 paper

NM_002392.6

p.E349*

c.1045G>T

2 papers

NM_002392.6

p.E360E

c.1080A>G