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

6 papers

NM_002392.6

p.S394A

c.1180T>G

Surrounding Variants

1 paper

NM_002392.6

p.S392S

c.1176A>T

1 paper

NM_002392.6

p.S392A

c.1174T>G

1 paper

NM_002392.6

p.A391_Q393delFs

c.1172_1179del8

1 paper

NM_002392.6

p.S397N

c.1190G>A

1 paper

NM_002392.6

p.E398D

c.1194A>C

1 paper

NM_002392.6

p.E398D

c.1194A>T

1 paper

NM_002392.6

p.Y400C

c.1199A>G

1 paper

NM_001145339.2

p.K332Q

c.994A>C

1 paper

NM_002392.6

p.D386G

c.1157A>G

1 paper

NM_002392.6

p.Q402*

c.1204C>T

1 paper

NM_002392.6

p.D386N

c.1156G>A

1 paper

NM_002392.6

p.D385N

c.1153G>A