Varaico: Literature-Extracted Genetic Variants

Gene:MYC
Variant:p.Q48del1

MYC

2,231 papers

RefSeq Summary

This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the ...

Pfam Domains

Myc_Naa 17–360UCSCMyc amino-terminal region
HLHaa 370–422UCSCHelix-loop-helix DNA-binding domain
Myc-LZaa 423–453UCSCMyc leucine zipper domain

Gene Aliases

HGNC Name

MYC proto-oncogene, bHLH transcription factor

HGNC Alias Symbols

c-Myc; bHLHe39; MYCC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_002467.6
p.Q48del1
c.142_143delCAG
Surrounding Variants
1 paper
NM_002467.6
p.Y47*
c.141C>A
2 papers
NM_002467.6
p.Q52ins0
c.154_156dupCAG
1 paper
NM_002467.6
p.Y47*
c.141C>G
2 papers
NM_002467.6
p.Y47Y
c.141C>T
1 paper
NM_002467.6
p.Q48fs
c.142_143fs
1 paper
NM_002467.6
p.Q48insFs
c.143_144insC
1 paper
NM_002467.6
p.Q48P
c.143A>C
1 paper
NM_002467.6
p.Q48L
c.143A>T
1 paper
NM_002467.6
p.Y47H
c.139T>C
4 papers
NM_002467.6
p.F46L
c.138C>A
1 paper
NM_002467.6
p.Y47Fs
c.139delinsTTFs
4 papers
NM_002467.6
p.F46L
c.138C>G
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