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

8 papers

NM_000257.4

p.D394E

c.1182C>A

Surrounding Variants

6 papers

NM_000257.4

p.D394E

c.1182C>G

7 papers

NM_000257.4

p.D394N

c.1180G>A

4 papers

NM_000257.4

p.A393V

c.1178C>T

1 paper

NM_000257.4

p.L396P

c.1187T>C

2 papers

NM_000257.4

p.K397E

c.1189A>G

1 paper

NM_000257.4

p.S392T

c.1174T>A

1 paper

NM_000257.4

p.K397T

c.1190A>C

1 paper

NM_000257.4

p.N391S

c.1172A>G

2 papers

NM_000257.4

p.N391T

c.1172A>C

1 paper

NM_000257.4

p.G398V

c.1193G>T

6 papers

NM_000257.4

p.G398E

c.1193G>A

1 paper

NM_000257.4

p.L390delins

c.1168_1170delinsGTT