Varaico: Literature-Extracted Genetic Variants

Gene:MYF6
Variant:p.L68P

MYF6

67 papers

RefSeq Summary

The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH ...

Pfam Domains

Basicaa 3–93UCSCMyogenic Basic domain
HLHaa 94–145UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

myogenic factor 6

HGNC Alias Symbols

MRF4; bHLHc4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002469.3
p.L68P
c.203T>C
Surrounding Variants
1 paper
NM_002469.3
p.H72R
c.215A>G
1 paper
NM_002469.3
p.L63fs
c.187_188fs
1 paper
NM_002469.3
p.L63delFs
c.187delC
2 papers
NM_002469.3
p.V62I
c.184G>A
1 paper
NM_002469.3
p.G75fs
c.223_224fs
1 paper
NM_002469.3
p.G75_Q76insFs
c.225_226insCG
1 paper
NM_002469.3
p.Q76L
c.227A>T
2 papers
NM_002469.3
p.G58R
c.172G>A
2 papers
NM_002469.3
p.G58R
c.172G>C
1 paper
NM_002469.3
p.S57S
c.171C>T
1 paper
NM_002469.3
p.S57G
c.169A>G
1 paper
NM_002469.3
p.W80C
c.240G>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."