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

7 papers

NM_000257.4

p.N597K

c.1791C>G

Surrounding Variants

7 papers

NM_000257.4

p.N597K

c.1791C>A

1 paper

NM_000257.4

p.K598*

c.1792A>T

1 paper

NM_000257.4

p.K598E

c.1792A>G

1 paper

NM_000257.4

p.N597_K598ins4

c.1789_1793ins12

1 paper

NM_000257.4

p.K596N

c.1788G>T

1 paper

NM_000257.4

p.K598insFs

c.1793dupA

1 paper

NM_000257.4

p.K596N

c.1788G>C

4 papers

NM_000257.4

p.P600S

c.1798C>T

4 papers

NM_000257.4

p.L601F

c.1801C>T

3 papers

NM_000257.4

p.L601V

c.1801C>G

3 papers

NM_000257.4

p.L594M

c.1780C>A

3 papers

NM_000257.4

p.N602Y

c.1804A>T