Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.P44L

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
94 papers
NM_005378.6
p.P44L
c.131C>T
Surrounding Variants
2 papers
NM_005378.6
p.P44H
c.131C>A
2 papers
NM_005378.6
p.P44T
c.130C>A
2 papers
NM_005378.6
p.P44S
c.130C>T
1 paper
NM_005378.6
p.P44P
c.132C>T
1 paper
NM_005378.6
p.P45fs
c.133_134fs
1 paper
NM_005378.6
p.P44_P45del2
c.130_134del6
2 papers
NM_005378.6
p.P45delFs
c.134_135delCG
7 papers
NM_005378.6
p.P45fs
c.133_134fs
1 paper
NM_005378.6
p.T43N
c.128C>A
1 paper
NM_005378.6
p.P45R
c.134C>G
3 papers
NM_005378.6
p.T43I
c.128C>T
4 papers
NM_005378.6
p.P45insFs
c.134dupC
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