Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.E266K

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.E266K
c.796G>A
Surrounding Variants
4 papers
NM_005378.6
p.D265G
c.794A>G
1 paper
NM_005378.6
p.D264fs
c.790_791fs
3 papers
NM_005378.6
p.D268_E271del0
c.802_813del12
1 paper
NM_005378.6
p.D264Splc
c.791-1G>C
1 paper
NM_005378.6
p.D264_E266delFs
c.792_798del7
1 paper
NM_005378.6
p.D268V
c.803A>T
1 paper
NM_005378.6
p.D265_E269del0
c.795_806del12
2 papers
NM_005378.6
p.D267_E270del0
c.801_809del9
1 paper
NM_005378.6
p.E271fs
c.811_812fs
1 paper
NM_005378.6
p.E271D
c.813A>C
1 paper
NM_005378.6
p.E271D
c.813A>T
1 paper
NM_005378.6
p.E273*
c.817G>T
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