Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.K321fs

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.K321fs
c.961_962fs
Surrounding Variants
1 paper
NM_005378.6
p.K321R
c.962A>G
1 paper
NM_005378.6
p.L320I
c.958C>A
5 papers
NM_005378.6
p.R322*
c.964C>T
4 papers
NM_005378.6
p.L320F
c.958C>T
1 paper
NM_005378.6
p.R322Q
c.965G>A
1 paper
NM_005378.6
p.C323_H327del0
c.969_980del12
1 paper
NM_005378.6
p.L318Q
c.953T>A
1 paper
NM_005378.6
p.H327Y
c.979C>T
1 paper
NM_005378.6
p.S315fs
c.943_944fs
1 paper
NM_005378.6
p.Q329E
c.985C>G
1 paper
NM_005378.6
p.A313T
c.937G>A
1 paper
NM_005378.6
p.N331del1
c.991_993delAAC
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