Varaico: Literature-Extracted Genetic Variants

Gene:MYF6
Variant:p.R103M

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.R103M
c.308G>T
Surrounding Variants
1 paper
NM_002469.3
p.R105K
c.314G>A
1 paper
NM_002469.3
p.L106R
c.317T>G
5 papers
NM_002469.3
p.A112S
c.334G>T
2 papers
NM_002469.3
p.F113L
c.339C>G
1 paper
NM_002469.3
p.E114Q
c.340G>C
3 papers
NM_002469.3
p.A90D
c.269C>A
2 papers
NM_002469.3
p.R119Q
c.356G>A
1 paper
NM_002469.3
p.C85R
c.253T>C
1 paper
NM_002469.3
p.K83K
c.249G>A
1 paper
NM_002469.3
p.W80C
c.240G>C
1 paper
NM_002469.3
p.W80C
c.240G>T
1 paper
NM_002469.3
p.Q76L
c.227A>T
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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."