Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R143Q

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
49 papers
NM_000257.4
p.R143Q
c.428G>A
Surrounding Variants
1 paper
NM_000257.4
p.R143P
c.428G>C
1 paper
NM_000257.4
p.R143R
c.429G>A
32 papers
NM_000257.4
p.R143W
c.427C>T
3 papers
NM_000257.4
p.R143G
c.427C>G
3 papers
NM_000257.4
p.G144S
c.430G>A
4 papers
NM_000257.4
p.G144V
c.431G>T
4 papers
NM_000257.4
p.G144D
c.431G>A
2 papers
NM_000257.4
p.A141V
c.422C>T
2 papers
NM_000257.4
p.K145K
c.435G>A
1 paper
NM_000257.4
p.A141T
c.421G>A
1 paper
NM_000257.4
p.K146E
c.436A>G
1 paper
NM_000257.4
p.A140V
c.419C>T
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