Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R373*

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
7 papers
NM_005378.6
p.R373*
c.1117C>T
Surrounding Variants
1 paper
NM_005378.6
p.R373R
c.1117C>A
5 papers
NM_005378.6
p.R373Q
c.1118G>A
1 paper
NM_005378.6
p.P372L
c.1115C>T
1 paper
NM_005378.6
p.S375delFs
c.1124_1125delCT
1 paper
NM_005378.6
p.S371R
c.1113C>A
1 paper
NM_005378.6
p.S371R
c.1113C>G
1 paper
NM_005378.6
p.S371N
c.1112G>A
1 paper
NM_005378.6
p.S371I
c.1112G>T
1 paper
NM_005378.6
p.S371fs
c.1111_1112fs
1 paper
NM_005378.6
p.S371R
c.1111A>C
1 paper
NM_005378.6
p.S375fs
c.1123_1124fs
1 paper
NM_005378.6
p.S375insFs
c.1125dupT
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