Varaico: Literature-Extracted Genetic Variants

Gene:MYC
Variant:p.Q49R

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
1 paper
NM_002467.6
p.Q49R
c.146A>G
Surrounding Variants
1 paper
NM_002467.6
p.Q49insFs
c.146_147insC
4 papers
NM_002467.6
p.Q49L
c.146A>T
1 paper
NM_002467.6
p.Q49K
c.145C>A
1 paper
NM_002467.6
p.Q49fs
c.145_146fs
1 paper
NM_002467.6
p.Q49Q
c.147G>A
2 papers
NM_002467.6
p.Q49H
c.147G>C
2 papers
NM_002467.6
p.Q49H
c.147G>T
1 paper
NM_002467.6
p.Q50*
c.148C>T
3 papers
NM_002467.6
p.Q48Q
c.144G>A
12 papers
NM_002467.6
p.Q48H
c.144G>C
12 papers
NM_002467.6
p.Q48H
c.144G>T
1 paper
NM_002467.6
p.Q48insFs
c.143_144insC
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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."