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.G733R

c.2197G>C

Surrounding Variants

1 paper

NM_000257.4

p.G733_Q734ins4

c.2197_2201ins12

2 papers

NM_000257.4

p.G733R

c.2197G>A

1 paper

NM_000257.4

p.G733V

c.2198G>T

14 papers

NM_000257.4

p.G733E

c.2198G>A

11 papers

NM_000257.4

p.Q734E

c.2200C>G

1 paper

NM_000257.4

p.I730delFs

c.2190delG

1 paper

NM_000257.4

p.Q734L

c.2201A>T

11 papers

NM_000257.4

p.Q734P

c.2201A>C

2 papers

NM_000257.4

p.Q734insFs

c.2201dupA

6 papers

NM_000257.4

p.P731L

c.2192C>T

3 papers

NM_000257.4

p.P731R

c.2192C>G

1 paper

NM_000257.4

p.P731H

c.2192C>A