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

4 papers

NM_000257.4

p.P151L

c.452C>T

Surrounding Variants

1 paper

NM_000257.4

p.P152A

c.454C>G

1 paper

NM_000257.4

p.S148_P151del4

c.442_452del12

1 paper

NM_000257.4

p.A150G

c.449C>G

1 paper

NM_000257.4

p.H153L

c.458A>T

1 paper

NM_000257.4

p.E149G

c.446A>G

1 paper

NM_000257.4

p.P152insFs

c.455_456insC

1 paper

NM_000257.4

p.H153delFs

c.457delG

2 papers

NM_000257.4

p.E149K

c.445G>A

1 paper

NM_000257.4

p.H153fs

c.457_458fs

3 papers

NM_000257.4

p.S148R

c.444C>G

3 papers

NM_000257.4

p.S148R

c.444C>A

1 paper

NM_000257.4

p.I154V

c.460A>G