Varaico: Literature-Extracted Genetic Variants

Gene:MYF5
Variant:p.E104K

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.E104K
c.310G>A
Surrounding Variants
1 paper
NM_005593.3
p.F103F
c.309C>T
1 paper
NM_005593.3
p.T105I
c.314C>T
1 paper
NM_005593.3
p.L96R
c.287T>G
3 papers
NM_005593.3
p.R95C
c.283C>T
2 papers
NM_005593.3
p.R93Q
c.278G>A
1 paper
NM_005593.3
p.Q116H
c.348G>C
1 paper
NM_005593.3
p.Q116H
c.348G>T
1 paper
NM_005593.3
p.M90L
c.268A>C
1 paper
NM_005593.3
p.M90L
c.268A>T
1 paper
NM_005593.3
p.V121V
c.363G>T
1 paper
NM_005593.3
p.R85Q
c.254G>A
1 paper
NM_005593.3
p.R85W
c.253C>T
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