Varaico: Literature-Extracted Genetic Variants

Gene:MYC
Variant:p.S53T

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.S53T
c.158G>C
Surrounding Variants
1 paper
NM_002467.6
p.S53N
c.158G>A
1 paper
NM_002467.6
p.S53insFs
c.158_159insTA
1 paper
NM_002467.6
p.S53I
c.158G>T
1 paper
NM_002467.6
p.S53G
c.157A>G
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.E54A
c.161A>C
1 paper
NM_002467.6
p.Q52R
c.155A>G
2 papers
NM_002467.6
p.E54V
c.161A>T
1 paper
NM_002467.6
p.Q52K
c.154C>A
1 paper
NM_002467.6
p.Q52insFs
c.155_156insTA
1 paper
NM_002467.6
p.Q52E
c.154C>G
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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."