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

1 paper

NM_000257.4

p.E179Q

c.535G>C

Surrounding Variants

1 paper

NM_000257.4

p.E179K

c.535G>A

2 papers

NM_000257.4

p.E179G

c.536A>G

1 paper

NM_000257.4

p.S180T

c.538T>A

10 papers

NM_000257.4

p.G178R

c.532G>C

9 papers

NM_000257.4

p.G178R

c.532G>A

1 paper

NM_000257.4

p.T177T

c.531C>T

8 papers

NM_000257.4

p.T177I

c.530C>T

1 paper

NM_000257.4

p.T177S

c.530C>G

9 papers

NM_000257.4

p.G181R

c.541G>C

9 papers

NM_000257.4

p.G181R

c.541G>A

1 paper

NM_000257.4

p.T177S

c.529A>T

2 papers

NM_000257.4

p.G181V

c.542G>T