Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.E378fs

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.E378fs
c.1132_1133fs
Surrounding Variants
3 papers
NM_005378.6
p.E378K
c.1132G>A
1 paper
NM_005378.6
p.E378*
c.1132G>T
1 paper
NM_005378.6
p.E378delFs
c.1132delG
1 paper
NM_005378.6
p.D379G
c.1136A>G
1 paper
NM_005378.6
p.S380delFs
c.1138delA
1 paper
NM_005378.6
p.S380delFs
c.1138_1139delAG
1 paper
NM_005378.6
p.S380fs
c.1138_1139fs
1 paper
NM_005378.6
p.D376delFs
c.1126delG
1 paper
NM_005378.6
p.S375insFs
c.1125dupT
1 paper
NM_005378.6
p.S375fs
c.1123_1124fs
1 paper
NM_005378.6
p.S375delFs
c.1124_1125delCT
3 papers
NM_005378.6
p.R382H
c.1145G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."