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

4 papers

NM_000257.4

p.I730N

c.2189T>A

Surrounding Variants

4 papers

NM_000257.4

p.I730T

c.2189T>C

1 paper

NM_000257.4

p.I730L

c.2188A>C

8 papers

NM_000257.4

p.P731S

c.2191C>T

6 papers

NM_000257.4

p.P731A

c.2191C>G

1 paper

NM_000257.4

p.P731T

c.2191C>A

6 papers

NM_000257.4

p.P731L

c.2192C>T

3 papers

NM_000257.4

p.P731R

c.2192C>G

1 paper

NM_000257.4

p.P731H

c.2192C>A

1 paper

NM_000257.4

p.I730delFs

c.2190delG

6 papers

NM_000257.4

p.A729P

c.2185G>C

10 papers

NM_000257.4

p.A728V

c.2183C>T

1 paper

NM_000257.4

p.G733_Q734ins4

c.2197_2201ins12