Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.P346L

MYCN

596 papers

RefSeq Summary

This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order t...

Pfam Domains

Myc_Naa 7–372UCSCMyc amino-terminal region
HLHaa 382–434UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MYCN proto-oncogene, bHLH transcription factor

HGNC Previous Symbol

NMYC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005378.6
p.P346L
c.1037C>T
Surrounding Variants
1 paper
NM_005378.6
p.P345fs
c.1033_1034fs
1 paper
NM_005378.6
p.K348E
c.1042A>G
3 papers
NM_005378.6
p.K351*
c.1051A>T
1 paper
NM_005378.6
p.S341C
c.1021A>T
1 paper
NM_005378.6
p.S341_E342delFs
c.1023_1024delTG
1 paper
NM_005378.6
p.E353K
c.1057G>A
1 paper
NM_005378.6
p.V339_S341delFs
c.1017_1021del5
1 paper
NM_005378.6
p.V339M
c.1015G>A
2 papers
NM_005378.6
p.Y338*
c.1014C>A
2 papers
NM_005378.6
p.Y338*
c.1014C>G
1 paper
NM_005378.6
p.A354insFs
c.1061dupC
1 paper
NM_005378.6
p.Y338C
c.1013A>G
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