Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.E178K

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.E178K
c.532G>A
Surrounding Variants
1 paper
NM_005378.6
p.L179F
c.535C>T
1 paper
NM_005378.6
p.A177T
c.529G>A
1 paper
NM_005378.6
p.A177P
c.529G>C
1 paper
NM_005378.6
p.H181Y
c.541C>T
1 paper
NM_005378.6
p.H181P
c.542A>C
1 paper
NM_005378.6
p.A174V
c.521C>T
1 paper
NM_005378.6
p.H181H
c.543C>T
1 paper
NM_005378.6
p.P182T
c.544C>A
1 paper
NM_005378.6
p.P182delins
c.544delinsGTTA
1 paper
NM_005378.6
p.A174S
c.520G>T
1 paper
NM_005378.6
p.A183T
c.547G>A
1 paper
NM_005378.6
p.A173P
c.517G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."