Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.G571R

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
11 papers
NM_000257.4
p.G571R
c.1711G>C
Surrounding Variants
10 papers
NM_000257.4
p.G571R
c.1711G>A
1 paper
NM_000257.4
p.K570R
c.1709A>G
1 paper
NM_000257.4
p.K572R
c.1715A>G
1 paper
NM_000257.4
p.R567delFs
c.1700_1701delGC
7 papers
NM_000257.4
p.R567H
c.1700G>A
1 paper
NM_000257.4
p.A575T
c.1723G>A
5 papers
NM_000257.4
p.R567C
c.1699C>T
26 papers
NM_000257.4
p.H576R
c.1727A>G
1 paper
NM_000257.4
p.F577L
c.1729T>C
1 paper
NM_000257.4
p.F577L
c.1731C>G
1 paper
NM_000257.4
p.F577L
c.1731C>A
1 paper
NM_000257.4
p.Q564R
c.1691A>G
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