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.D752N

c.2254G>A

Surrounding Variants

1 paper

NM_000257.4

p.D750_I751del1

c.2249_2251delTGT

1 paper

NM_000257.4

p.I751V

c.2251A>G

1 paper

NM_000257.4

p.D750G

c.2249A>G

1 paper

NM_000257.4

p.N754D

c.2260A>G

4 papers

NM_000257.4

p.L749Q

c.2246T>A

1 paper

NM_000257.4

p.N754K

c.2262C>G

1 paper

NM_000257.4

p.N754K

c.2262C>A

1 paper

NM_000257.4

p.Q755*

c.2263C>T

1 paper

NM_000257.4

p.L749L

c.2245C>T

5 papers

NM_000257.4

p.S748F

c.2243C>T

1 paper

NM_000257.4

p.S748delins

c.2242_2243delinsAT

4 papers

NM_000257.4

p.S748P

c.2242T>C