Varaico: Literature-Extracted Genetic Variants

Gene:MYC
Variant:p.E54D

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.E54D
c.162G>C
Surrounding Variants
14 papers
NM_002467.6
p.E54D
c.162G>T
1 paper
NM_002467.6
p.E54_A59delins
c.162_176delinsCCT
1 paper
NM_002467.6
p.E54A
c.161A>C
2 papers
NM_002467.6
p.E54V
c.161A>T
3 papers
NM_002467.6
p.L55M
c.163C>A
1 paper
NM_002467.6
p.L55L
c.163C>T
2 papers
NM_002467.6
p.E54Q
c.160G>C
1 paper
NM_002467.6
p.E54fs
c.160_161fs
1 paper
NM_002467.6
p.L55Q
c.164T>A
2 papers
NM_002467.6
p.L55P
c.164T>C
1 paper
NM_002467.6
p.Q56_P60del0
c.167_178del12
1 paper
NM_002467.6
p.S53N
c.158G>A
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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."