Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.I590V

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
2 papers
NM_000257.4
p.I590V
c.1768A>G
Surrounding Variants
1 paper
NM_000257.4
p.N589N
c.1767C>T
4 papers
NM_000257.4
p.N589I
c.1766A>T
1 paper
NM_000257.4
p.N589D
c.1765A>G
1 paper
NM_000257.4
p.Y588*
c.1764C>G
1 paper
NM_000257.4
p.Y588*
c.1764C>A
9 papers
NM_000257.4
p.Y588F
c.1763A>T
2 papers
NM_000257.4
p.G592S
c.1774G>A
2 papers
NM_000257.4
p.D587V
c.1760A>T
4 papers
NM_000257.4
p.D587H
c.1759G>C
5 papers
NM_000257.4
p.D587N
c.1759G>A
5 papers
NM_000257.4
p.V586A
c.1757T>C
2 papers
NM_000257.4
p.V586M
c.1756G>A
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