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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYF6

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 49 variants

5 papers

chr12:80708053 G>T

NM_002469.3

p.A112S

c.334G>T

HLH

Exome: 0.2% (AC=2214, hom=2)Genome: 0.1% (AC=183, hom=0)28 overlapping SVs

3 papers

chr12:80707988 C>A

NM_002469.3

p.A90D

c.269C>A

Basic

Exome: 0.1% (AC=2137, hom=3)Genome: 0.1% (AC=130, hom=0)28 overlapping SVs

2 papers

chr12:80707891 G>A

NM_002469.3

p.G58R

c.172G>A

Basic

Exome: 0.0% (AC=75, hom=1)Genome: 0.0% (AC=10, hom=0)28 overlapping SVs

2 papers

chr12:80707891 G>C

NM_002469.3

p.G58R

c.172G>C

Basic

Exome: 0.0% (AC=3, hom=0)Genome: n/a28 overlapping SVs

2 papers

chr12:80707903 G>A

NM_002469.3

p.V62I

c.184G>A

Basic

Exome: 0.0% (AC=572, hom=0)Genome: 0.0% (AC=29, hom=0)28 overlapping SVs

2 papers

chr12:80708058 C>G

NM_002469.3

p.F113L

c.339C>G

HLH

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

2 papers

chr12:80708075 G>A

NM_002469.3

p.R119Q

c.356G>A

HLH

Exome: 0.0% (AC=3, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr12:80707722 G>T

NM_002469.3

p.M1I

c.3G>T

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:80707726 A>C

NM_002469.3

p.M3L

c.7A>C

Basic

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:80707726 A>T

NM_002469.3

p.M3L

c.7A>T

Basic

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:80707766 A>G

NM_002469.3

p.D16G

c.47A>G

Basic

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:80707784 T>C

NM_002469.3

p.L22P

c.65T>C

Basic

exact variant not in gnomAD28 overlapping SVs

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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."