Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Y65*

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.Y65*
c.195T>G
Surrounding Variants
1 paper
NM_000257.4
p.Y65*
c.195T>A
1 paper
NM_000257.4
p.G66C
c.196G>T
1 paper
NM_000257.4
p.G66R
c.196G>C
1 paper
NM_000257.4
p.G66S
c.196G>A
2 papers
NM_000257.4
p.Y65H
c.193T>C
2 papers
NM_000257.4
p.K67*
c.199A>T
1 paper
NM_000257.4
p.E64G
c.191A>G
2 papers
NM_000257.4
p.K67M
c.200A>T
9 papers
NM_000257.4
p.T63T
c.189C>T
3 papers
NM_000257.4
p.E62Q
c.184G>C
7 papers
NM_000257.4
p.E62K
c.184G>A
3 papers
NM_000257.4
p.A61A
c.183C>T
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