Varaico: Literature-Extracted Genetic Variants

Gene:MYF5
Variant:p.R125K

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
1 paper
NM_005593.3
p.R125K
c.374G>A
Surrounding Variants
1 paper
NM_005593.3
p.R125R
c.375G>A
1 paper
NM_005593.3
p.A127V
c.380C>T
2 papers
NM_005593.3
p.R129C
c.385C>T
1 paper
NM_005593.3
p.V121V
c.363G>T
1 paper
NM_005593.3
p.R129H
c.386G>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.L137F
c.411G>C
1 paper
NM_005593.3
p.L137F
c.411G>T
1 paper
NM_005593.3
p.E140*
c.418G>T
1 paper
NM_005593.3
p.N144S
c.431A>G
1 paper
NM_005593.3
p.Y145C
c.434A>G
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