Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A543V

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.A543V
c.1628C>T
Surrounding Variants
1 paper
NM_000257.4
p.A543T
c.1627G>A
2 papers
NM_000257.4
p.K542N
c.1626G>T
2 papers
NM_000257.4
p.K542N
c.1626G>C
4 papers
NM_000257.4
p.T544A
c.1630A>G
6 papers
NM_000257.4
p.K542R
c.1625A>G
3 papers
NM_000257.4
p.K542T
c.1625A>C
21 papers
NM_000257.4
p.D545N
c.1633G>A
1 paper
NM_000257.4
p.P541S
c.1621C>T
2 papers
NM_000257.4
p.F540L
c.1620C>G
2 papers
NM_000257.4
p.F540L
c.1620C>A
4 papers
NM_000257.4
p.F540L
c.1618T>C
1 paper
NM_000257.4
p.M539I
c.1617G>T
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