Varaico: Literature-Extracted Genetic Variants

Gene:MYF6
Variant:p.M3L

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.M3L
c.7A>T
Surrounding Variants
1 paper
NM_002469.3
p.M3L
c.7A>C
1 paper
NM_002469.3
p.M1I
c.3G>T
1 paper
NM_002469.3
p.D16G
c.47A>G
1 paper
NM_002469.3
p.L22P
c.65T>C
1 paper
NM_002469.3
p.Q23P
c.68A>C
1 paper
NM_002469.3
p.V27M
c.79G>A
1 paper
NM_002469.3
p.P32S
c.94C>T
1 paper
NM_002469.3
p.P49P
c.147C>T
1 paper
NM_002469.3
p.A52V
c.155C>T
1 paper
NM_002469.3
p.S57G
c.169A>G
1 paper
NM_002469.3
p.S57S
c.171C>T
2 papers
NM_002469.3
p.G58R
c.172G>A
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