Varaico: Literature-Extracted Genetic Variants

Gene:MYF5
Variant:p.Q8fs

MYF5

85 papers

Pfam Domains

Basicaa 13–83UCSCMyogenic Basic domain
HLHaa 84–135UCSCHelix-loop-helix DNA-binding domain
Myf5aa 143–214UCSCMyogenic determination factor 5

Gene Aliases

HGNC Name

myogenic factor 5

HGNC Alias Symbol

bHLHc2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005593.3
p.Q8fs
c.22_23fs
Surrounding Variants
2 papers
NM_005593.3
p.Q8_P11delFs
c.23_32del10
1 paper
NM_005593.3
p.F9_S10insFs
c.27_28insT
1 paper
NM_005593.3
p.G18G
c.54C>G
1 paper
NM_005593.3
p.I21V
c.61A>G
2 papers
NM_005593.3
p.S23_F32del10
c.67_95del30
1 paper
NM_005593.3
p.S23F
c.68C>T
1 paper
NM_005593.3
p.P24S
c.70C>T
2 papers
NM_005593.3
p.G26V
c.77G>T
1 paper
NM_005593.3
p.E27K
c.79G>A
1 paper
NM_005593.3
p.D30E
c.90C>A
1 paper
NM_005593.3
p.D30E
c.90C>G
1 paper
NM_005593.3
p.E31Q
c.91G>C
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