Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A223V

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
3 papers
NM_000257.4
p.A223V
c.668C>T
Surrounding Variants
1 paper
NM_000257.4
p.A223S
c.667G>T
11 papers
NM_000257.4
p.A223T
c.667G>A
1 paper
NM_000257.4
p.Q222H
c.666G>T
1 paper
NM_000257.4
p.Q222H
c.666G>C
1 paper
NM_000257.4
p.N224H
c.670A>C
3 papers
NM_000257.4
p.N224I
c.671A>T
1 paper
NM_000257.4
p.Q222R
c.665A>G
2 papers
NM_000257.4
p.Q222K
c.664C>A
1 paper
NM_000257.4
p.P225S
c.673C>T
1 paper
NM_000257.4
p.I221I
c.663C>A
1 paper
NM_000257.4
p.I221T
c.662T>C
1 paper
NM_000257.4
p.P225L
c.674C>T
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