Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.P107S

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.P107S
c.319C>T
Surrounding Variants
1 paper
NM_005378.6
p.L105L
c.315C>T
3 papers
NM_005378.6
p.P109_Q113del5
c.325_338del15
2 papers
NM_005378.6
p.P109Q
c.326C>A
1 paper
NM_005378.6
p.G104D
c.311G>A
1 paper
NM_005378.6
p.L102_G103delFs
c.306_307delGG
1 paper
NM_005378.6
p.L112I
c.334C>A
1 paper
NM_005378.6
p.L112_M116del0
c.336_347del12
1 paper
NM_005378.6
p.G101G
c.303A>T
1 paper
NM_005378.6
p.G101A
c.302G>C
2 papers
NM_005378.6
p.G101fs
c.301_302fs
1 paper
NM_005378.6
p.G101*
c.301G>T
1 paper
NM_005378.6
p.G101fs
c.301_302fs
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