Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R200P

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.R200P
c.599G>C
Surrounding Variants
1 paper
NM_005378.6
p.E201K
c.601G>A
1 paper
NM_005378.6
p.A203E
c.608C>A
1 paper
NM_005378.6
p.V197A
c.590T>C
1 paper
NM_005378.6
p.V197M
c.589G>A
1 paper
NM_005378.6
p.V197fs
c.589_590fs
2 papers
NM_005378.6
p.V205M
c.613G>A
1 paper
NM_005378.6
p.V205A
c.614T>C
1 paper
NM_005378.6
p.P194R
c.581C>G
1 paper
NM_005378.6
p.A207insFs
c.619_620insG
1 paper
NM_005378.6
p.A207insFs
c.619_620insGG
1 paper
NM_005378.6
p.P194A
c.580C>G
1 paper
NM_005378.6
p.A207delFs
c.619delG
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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."