Varaico: Literature-Extracted Genetic Variants

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

6 papers

NM_000257.4

p.R23W

c.67C>T

Surrounding Variants

1 paper

NM_000257.4

p.R23fs

c.67_68fs

2 papers

NM_000257.4

p.E22G

c.65A>G

9 papers

NM_000257.4

p.E22K

c.64G>A

2 papers

NM_000257.4

p.K21_E22insFs

c.63_64insC

1 paper

NM_000257.4

p.L24L

c.72A>G

1 paper

NM_000257.4

p.K21insFs

c.61_62insCT

1 paper

NM_000257.4

p.E25V

c.74A>T

40 papers

NM_000257.4

p.A26V

c.77C>T

1 paper

NM_000257.4

p.E25del1

c.73_74delTTC

8 papers

NM_000257.4

p.S19S

c.57A>G

1 paper

NM_000257.4

p.S19L

c.56C>T

2 papers

NM_000257.4

p.Q27*

c.79C>T