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.K51N

c.153A>T

Surrounding Variants

1 paper

NM_002392.6

p.K51N

c.153A>C

1 paper

NM_002392.6

p.K51R

c.152A>G

1 paper

NM_002392.6

p.D52N

c.154G>A

1 paper

NM_002392.6

p.Q50H

c.150A>C

1 paper

NM_002392.6

p.Q50H

c.150A>T

1 paper

NM_002392.6

p.Q50L

c.149A>T

1 paper

NM_002392.6

p.Q50*

c.148C>T

1 paper

NM_002392.6

p.T53delFs

c.159delT

1 paper

NM_002392.6

p.A49E

c.146C>A

2 papers

NM_002392.6

p.A49V

c.146C>T

1 paper

NM_002392.6

p.Y54H

c.160T>C

2 papers

NM_002392.6

p.Y54D

c.160T>G