Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R393C

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
3 papers
NM_005378.6
p.R393C
c.1177C>T
Surrounding Variants
4 papers
NM_005378.6
p.R393S
c.1177C>A
7 papers
NM_005378.6
p.R393H
c.1178G>A
2 papers
NM_005378.6
p.R394G
c.1180C>G
5 papers
NM_005378.6
p.R394H
c.1181G>A
1 paper
NM_005378.6
p.R394L
c.1181G>T
2 papers
NM_005378.6
p.R391H
c.1172G>A
1 paper
NM_005378.6
p.N395D
c.1183A>G
4 papers
NM_005378.6
p.R391C
c.1171C>T
2 papers
NM_005378.6
p.E390K
c.1168G>A
1 paper
NM_005378.6
p.D396N
c.1186G>A
1 paper
NM_005378.6
p.E390fs
c.1168_1169fs
1 paper
NM_005378.6
p.E390*
c.1168G>T
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