Varaico: Literature-Extracted Genetic Variants

Gene:MYF5
Variant:p.K43N

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.K43N
c.129A>T
Surrounding Variants
1 paper
NM_005593.3
p.K43N
c.129A>C
1 paper
NM_005593.3
p.A41P
c.121G>C
2 papers
NM_005593.3
p.Q47*
c.139C>T
1 paper
NM_005593.3
p.G40fs
c.118_119fs
1 paper
NM_005593.3
p.F39F
c.117C>T
2 papers
NM_005593.3
p.Q47H
c.141G>C
2 papers
NM_005593.3
p.Q47H
c.141G>T
1 paper
NM_005593.3
p.H54N
c.160C>A
1 paper
NM_005593.3
p.E31Q
c.91G>C
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.P58L
c.173C>T
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