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

1–12 of 646 variants

102 papers

NM_002392.6

p.S155Y

c.464C>A

23 papers

NM_002392.6

p.R5Splc

c.14+309T>G

22 papers

NM_002392.6

p.R103S

c.309G>T

20 papers

NM_002392.6

p.L33R

c.98T>G

9 papers

NM_002392.6

p.V20I

c.58G>A

8 papers

NM_002392.6

p.Y54F

c.161A>T

7 papers

NM_002392.6

p.V115E

c.344T>A

7 papers

NM_002392.6

p.S166A

c.496T>G

7 papers

NM_002392.6

p.I195T

c.584T>C

6 papers

NM_002392.6

p.V2L

c.4G>T

6 papers

NM_002392.6

p.S23A

c.67T>G

6 papers

NM_002392.6

p.S394A

c.1180T>G