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.E201insFs

c.602dupA

Surrounding Variants

1 paper

NM_002392.6

p.E201K

c.601G>A

1 paper

NM_002392.6

p.S202_L203insT

c.604_608ins3

1 paper

NM_002392.6

p.D200N

c.598G>A

1 paper

NM_002392.6

p.S202I

c.605G>T

1 paper

NM_002392.6

p.L203fs

c.607_608fs

1 paper

NM_002392.6

p.L203L

c.607C>T

1 paper

NM_002392.6

p.L203L

c.609G>C

2 papers

NM_002392.6

p.A204S

c.610G>T

1 paper

NM_002392.6

p.L197P

c.590T>C

1 paper

NM_002392.6

p.L197F

c.589C>T

1 paper

NM_002392.6

p.L205Q

c.614T>A

1 paper

NM_002392.6

p.L205P

c.614T>C