Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.G104D

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.G104D
c.311G>A
Surrounding Variants
1 paper
NM_005378.6
p.L105L
c.315C>T
1 paper
NM_005378.6
p.L102_G103delFs
c.306_307delGG
1 paper
NM_005378.6
p.G101G
c.303A>T
1 paper
NM_005378.6
p.P107S
c.319C>T
1 paper
NM_005378.6
p.G101A
c.302G>C
2 papers
NM_005378.6
p.G101fs
c.301_302fs
1 paper
NM_005378.6
p.G101*
c.301G>T
1 paper
NM_005378.6
p.G101fs
c.301_302fs
1 paper
NM_005378.6
p.G100E
c.299G>A
2 papers
NM_005378.6
p.G100V
c.299G>T
3 papers
NM_005378.6
p.P109_Q113del5
c.325_338del15
3 papers
NM_005378.6
p.G100_G101del2
c.298_302del6
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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."