Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R383C

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.R383C
c.1147C>T
Surrounding Variants
3 papers
NM_005378.6
p.R383H
c.1148G>A
3 papers
NM_005378.6
p.R382H
c.1145G>A
1 paper
NM_005378.6
p.R382P
c.1145G>C
1 paper
NM_005378.6
p.R384S
c.1152A>C
1 paper
NM_005378.6
p.H386delFs
c.1156delC
1 paper
NM_005378.6
p.N385K
c.1155C>A
1 paper
NM_005378.6
p.N385K
c.1155C>G
1 paper
NM_005378.6
p.S380fs
c.1138_1139fs
1 paper
NM_005378.6
p.H386fs
c.1156_1157fs
2 papers
NM_005378.6
p.H386R
c.1157A>G
1 paper
NM_005378.6
p.S380delFs
c.1138delA
1 paper
NM_005378.6
p.S380delFs
c.1138_1139delAG
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