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

2 papers

NM_002392.6

p.R35K

c.104G>A

Surrounding Variants

1 paper

NM_002392.6

p.R35*

c.103A>T

1 paper

NM_002392.6

p.P36T

c.106C>A

1 paper

NM_002392.6

p.V34L

c.100G>C

1 paper

NM_002392.6

p.K37R

c.110A>G

2 papers

NM_002392.6

p.K37K

c.111G>A

1 paper

NM_002392.6

p.P38fs

c.112_113fs

1 paper

NM_002392.6

p.L39F

c.117G>C

1 paper

NM_002392.6

p.L39F

c.117G>T

1 paper

NM_002392.6

p.L43I

c.127T>A

1 paper

NM_002392.6

p.L43F

c.129A>C

1 paper

NM_002392.6

p.L43F

c.129A>T

1 paper

NM_002392.6

p.L44insFs

c.131_132insA