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

3 papers

NM_000257.4

p.L594M

c.1780C>A

Surrounding Variants

2 papers

NM_000257.4

p.G592S

c.1774G>A

1 paper

NM_000257.4

p.K596N

c.1788G>T

1 paper

NM_000257.4

p.K596N

c.1788G>C

1 paper

NM_000257.4

p.N597_K598ins4

c.1789_1793ins12

7 papers

NM_000257.4

p.N597K

c.1791C>G

7 papers

NM_000257.4

p.N597K

c.1791C>A

1 paper

NM_000257.4

p.K598*

c.1792A>T

2 papers

NM_000257.4

p.I590V

c.1768A>G

1 paper

NM_000257.4

p.K598E

c.1792A>G

1 paper

NM_000257.4

p.N589N

c.1767C>T

1 paper

NM_000257.4

p.K598insFs

c.1793dupA

4 papers

NM_000257.4

p.N589I

c.1766A>T