Varaico: Literature-Extracted Genetic Variants

Gene:MYC
Variant:p.L193L

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.L193L
c.577C>T
Surrounding Variants
2 papers
NM_002467.6
p.L193_Q194delins
c.579_580delinsTG
2 papers
NM_002467.6
p.Q194E
c.580C>G
1 paper
NM_002467.6
p.Y192N
c.574T>A
1 paper
NM_002467.6
p.Y192insFs
c.575_576insA
1 paper
NM_002467.6
p.L191L
c.573G>A
2 papers
NM_002467.6
p.L191F
c.573G>C
2 papers
NM_002467.6
p.L191F
c.573G>T
1 paper
NM_002467.6
p.D195N
c.583G>A
1 paper
NM_002467.6
p.L191L
c.571T>C
2 papers
NM_002467.6
p.D195A
c.584A>C
5 papers
NM_002467.6
p.S190R
c.570C>A
5 papers
NM_002467.6
p.S190R
c.570C>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."