Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L227V

MYH7

2,286 papers

RefSeq Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit o...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain
Myosin_headaa 87–766UCSCMyosin head (motor domain)
Myosin_tail_1aa 843–1924UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 7

HGNC Previous Symbols

CMH1; MPD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000257.4
p.L227V
c.679C>G
Surrounding Variants
6 papers
NM_000257.4
p.A226V
c.677C>T
1 paper
NM_000257.4
p.A226S
c.676G>T
1 paper
NM_000257.4
p.E228Q
c.682G>C
5 papers
NM_000257.4
p.A226T
c.676G>A
1 paper
NM_000257.4
p.N224_L227del4
c.670_680del12
1 paper
NM_000257.4
p.E228E
c.684G>A
1 paper
NM_000257.4
p.P225L
c.674C>T
1 paper
NM_000257.4
p.P225S
c.673C>T
1 paper
NM_000257.4
p.A229V
c.686C>T
1 paper
NM_000257.4
p.A229A
c.687C>T
3 papers
NM_000257.4
p.N224I
c.671A>T
1 paper
NM_000257.4
p.F230L
c.688T>C
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