Varaico: Literature-Extracted Genetic Variants

Gene:MYC
Variant:p.A230V

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
2 papers
NM_002467.6
p.A230V
c.689C>T
Surrounding Variants
2 papers
NM_002467.6
p.A230T
c.688G>A
1 paper
NM_002467.6
p.A230S
c.688G>T
2 papers
NM_002467.6
p.F231L
c.691T>C
2 papers
NM_002467.6
p.S229N
c.686G>A
1 paper
NM_002467.6
p.S229R
c.685A>C
1 paper
NM_002467.6
p.F231L
c.693C>A
1 paper
NM_002467.6
p.F231L
c.693C>G
1 paper
NM_002467.6
p.S232P
c.694T>C
1 paper
NM_002467.6
p.S232C
c.695C>G
1 paper
NM_002467.6
p.S232F
c.695C>T
1 paper
NM_002467.6
p.S229del1
c.685_686delAGC
1 paper
NM_002467.6
p.S228P
c.682T>C
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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."