Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.A143D

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.A143D
c.428C>A
Surrounding Variants
1 paper
NM_005378.6
p.A143T
c.427G>A
1 paper
NM_005378.6
p.A143insFs
c.429dupC
1 paper
NM_005378.6
p.T142delins
c.425_426delinsGA
1 paper
NM_005378.6
p.P141T
c.421C>A
1 paper
NM_005378.6
p.T146I
c.437C>T
1 paper
NM_005378.6
p.Q148delFs
c.442delC
1 paper
NM_005378.6
p.G139R
c.415G>A
1 paper
NM_005378.6
p.G139R
c.415G>C
1 paper
NM_005378.6
p.Q148fs
c.442_443fs
2 papers
NM_005378.6
p.R138S
c.412C>A
1 paper
NM_005378.6
p.S149P
c.445T>C
1 paper
NM_005378.6
p.P150delFs
c.449delC
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