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.S435R

c.1305T>G

Surrounding Variants

1 paper

NM_002392.6

p.S435R

c.1305T>A

1 paper

NM_002392.6

p.S435R

c.1303A>C

1 paper

NM_002392.6

p.L438delFs

c.1312delC

NM_001278462.2

p.L262delFs

c.784delC

NM_001145339.2

p.L383delFs

c.1147delC

1 paper

NM_002392.6

p.P437S

c.1309C>T

1 paper

NM_002392.6

p.S434_L436delFs

c.1302_1306del5

1 paper

NM_002392.6

p.P437L

c.1310C>T

2 papers

NM_002392.6

p.E433A

c.1298A>C

1 paper

NM_002392.6

p.L438V

c.1312C>G

2 papers

NM_002392.6

p.E433K

c.1297G>A

1 paper

NM_002392.6

p.E433delFs

c.1297_1298delGA

1 paper

NM_002392.6

p.N439fs

c.1315_1316fs

NM_001145339.2

p.N384fs

c.1150_1151fs

NM_001278462.2

p.N263fs

c.787_788fs

1 paper

NM_002392.6

p.V432E

c.1295T>A