Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.F53I

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.F53I
c.157T>A
Surrounding Variants
1 paper
NM_005378.6
p.F53_P57delFs
c.158_171del14
1 paper
NM_005378.6
p.K52R
c.155A>G
1 paper
NM_005378.6
p.K52M
c.155A>T
1 paper
NM_005378.6
p.E54_L55del2
c.160_164del6
1 paper
NM_005378.6
p.K52fs
c.154_155fs
1 paper
NM_005378.6
p.E54_L55del1
c.162_164delGCT
1 paper
NM_005378.6
p.K51N
c.153G>C
1 paper
NM_005378.6
p.K51_K52insFs
c.153_154insC
1 paper
NM_005378.6
p.K51N
c.153G>T
1 paper
NM_005378.6
p.K51*
c.151A>T
1 paper
NM_005378.6
p.L56delFs
c.167_168delTG
1 paper
NM_005378.6
p.I49M
c.147C>G
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