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

9 papers

NM_000257.4

p.Q791_S792insFs

c.2373_2374insG

Surrounding Variants

3 papers

NM_000257.4

p.Q791fs

c.2371_2372fs

1 paper

NM_000257.4

p.S792Y

c.2375C>A

3 papers

NM_000257.4

p.R793*

c.2377C>T

1 paper

NM_000257.4

p.Q791K

c.2371C>A

3 papers

NM_000257.4

p.R793Q

c.2378G>A

1 paper

NM_000257.4

p.Q789fs

c.2365_2366fs

1 paper

NM_000257.4

p.G794D

c.2381G>A

1 paper

NM_000257.4

p.Q789delFs

c.2366delT

1 paper

NM_000257.4

p.V795M

c.2383G>A

1 paper

NM_000257.4

p.V795A

c.2384T>C

2 papers

NM_000257.4

p.L796F

c.2386C>T

31 papers

NM_000257.4

p.R787H

c.2360G>A