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.D628Fs

c.1884delinsACFs

Surrounding Variants

1 paper

NM_000257.4

p.D628fs

c.1882_1883fs

1 paper

NM_000257.4

p.D628N

c.1882G>A

3 papers

NM_000257.4

p.A629V

c.1886C>T

1 paper

NM_000257.4

p.A629A

c.1887G>A

3 papers

NM_000257.4

p.S618_A629delFs

c.1854_1885del32

3 papers

NM_000257.4

p.P630S

c.1888C>T

2 papers

NM_000257.4

p.A627V

c.1880C>T

1 paper

NM_000257.4

p.P630A

c.1888C>G

1 paper

NM_000257.4

p.P630T

c.1888C>A

2 papers

NM_000257.4

p.P630Splc

c.1888+1G>C

4 papers

NM_000257.4

p.P630Splc

c.1888+1G>A

1 paper

NM_000257.4

p.A625S

c.1873G>T