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.S155T

c.463T>A

Surrounding Variants

102 papers

NM_002392.6

p.S155Y

c.464C>A

2 papers

NM_002392.6

p.S154*

c.461C>A

2 papers

NM_002392.6

p.S154*

c.461C>G

2 papers

NM_002392.6

p.S154P

c.460T>C

1 paper

NM_002392.6

p.S156L

c.467C>T

1 paper

NM_002392.6

p.P153fs

c.457_458fs

1 paper

NM_002392.6

p.K152_P153insFs

c.456_457insC

1 paper

NM_002392.6

p.P153_S156delFs

c.457_467del11

2 papers

NM_002392.6

p.E151A

c.452A>C

1 paper

NM_002392.6

p.E151Q

c.451G>C

2 papers

NM_002392.6

p.S160F

c.479C>T

1 paper

NM_002392.6

p.R161K

c.482G>A