Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.K125E

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.K125E
c.373A>G
Surrounding Variants
1 paper
NM_005378.6
p.L126M
c.376C>A
1 paper
NM_005378.6
p.R123C
c.367C>T
1 paper
NM_005378.6
p.R128G
c.382C>G
1 paper
NM_005378.6
p.R128C
c.382C>T
4 papers
NM_005378.6
p.R128H
c.383G>A
1 paper
NM_005378.6
p.S121T
c.361T>A
1 paper
NM_005378.6
p.F120F
c.360C>T
1 paper
NM_005378.6
p.G119insFs
c.355_356insGT
1 paper
NM_005378.6
p.S131I
c.392G>T
2 papers
NM_005378.6
p.E132K
c.394G>A
1 paper
NM_005378.6
p.E132*
c.394G>T
1 paper
NM_005378.6
p.E132D
c.396G>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."