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

2 papers

NM_000257.4

p.I785V

c.2353A>G

Surrounding Variants

2 papers

NM_000257.4

p.T786A

c.2356A>G

2 papers

NM_000257.4

p.R783R

c.2349C>T

1 paper

NM_000257.4

p.T786M

c.2357C>T

3 papers

NM_000257.4

p.R783L

c.2348G>T

16 papers

NM_000257.4

p.R783P

c.2348G>C

27 papers

NM_000257.4

p.R783H

c.2348G>A

18 papers

NM_000257.4

p.R787C

c.2359C>T

11 papers

NM_000257.4

p.R783C

c.2347C>T

1 paper

NM_000257.4

p.R783G

c.2347C>G

31 papers

NM_000257.4

p.R787H

c.2360G>A

5 papers

NM_000257.4

p.S782R

c.2346C>G

7 papers

NM_000257.4

p.S782R

c.2346C>A