Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.E283K

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.E283K
c.847G>A
Surrounding Variants
1 paper
NM_005378.6
p.V282M
c.844G>A
1 paper
NM_005378.6
p.K284N
c.852G>C
1 paper
NM_005378.6
p.K284N
c.852G>T
1 paper
NM_005378.6
p.R285W
c.853C>T
1 paper
NM_005378.6
p.V280V
c.840C>G
2 papers
NM_005378.6
p.R285L
c.854G>T
1 paper
NM_005378.6
p.R286S
c.856C>A
1 paper
NM_005378.6
p.R286C
c.856C>T
1 paper
NM_005378.6
p.V280fs
c.838_839fs
1 paper
NM_005378.6
p.V280F
c.838G>T
2 papers
NM_005378.6
p.R286H
c.857G>A
1 paper
NM_005378.6
p.V279insFs
c.837dupG
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