Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.A226P

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
2 papers
NM_005378.6
p.A226P
c.676G>C
Surrounding Variants
1 paper
NM_005378.6
p.A226S
c.676G>T
1 paper
NM_005378.6
p.A226V
c.677C>T
2 papers
NM_005378.6
p.A226delFs
c.676delG
1 paper
NM_005378.6
p.P228delFs
c.683delC
3 papers
NM_005378.6
p.P228fs
c.682_683fs
1 paper
NM_005378.6
p.A223A
c.669G>T
1 paper
NM_005378.6
p.A223P
c.667G>C
1 paper
NM_005378.6
p.A229V
c.686C>T
1 paper
NM_005378.6
p.G222E
c.665G>A
2 papers
NM_005378.6
p.G230V
c.689G>T
3 papers
NM_005378.6
p.S221*
c.662C>A
1 paper
NM_005378.6
p.S221P
c.661T>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."