Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q209E

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.Q209E
c.625C>G
Surrounding Variants
1 paper
NM_000257.4
p.Q209K
c.625C>A
1 paper
NM_000257.4
p.D208V
c.623A>T
1 paper
NM_000257.4
p.D208N
c.622G>A
1 paper
NM_000257.4
p.K207N
c.621G>T
1 paper
NM_000257.4
p.K207N
c.621G>C
1 paper
NM_000257.4
p.K207T
c.620A>C
1 paper
NM_000257.4
p.D208_S210del3
c.622_629del9
13 papers
NM_000257.4
p.K207Q
c.619A>C
16 papers
NM_000257.4
p.P211L
c.632C>T
1 paper
NM_000257.4
p.K206Q
c.616A>C
1 paper
NM_000257.4
p.G212V
c.635G>T
1 paper
NM_000257.4
p.G212D
c.635G>A
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