Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.E132*

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.E132*
c.394G>T
Surrounding Variants
2 papers
NM_005378.6
p.E132K
c.394G>A
1 paper
NM_005378.6
p.E132D
c.396G>C
1 paper
NM_005378.6
p.S131I
c.392G>T
1 paper
NM_005378.6
p.E132D
c.396G>T
2 papers
NM_005378.6
p.L134_Q135del2
c.400_404del6
1 paper
NM_005378.6
p.Q135fs
c.403_404fs
1 paper
NM_005378.6
p.Q135_G139del0
c.404_415del12
1 paper
NM_005378.6
p.Q135_P141delFs
c.405_421del17
4 papers
NM_005378.6
p.R128H
c.383G>A
1 paper
NM_005378.6
p.R128G
c.382C>G
1 paper
NM_005378.6
p.R128C
c.382C>T
1 paper
NM_005378.6
p.G137S
c.409G>A
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