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

1 paper

NM_000257.4

p.Q1788R

c.5363A>G

Surrounding Variants

1 paper

NM_000257.4

p.T1789N

c.5366C>A

3 papers

NM_000257.4

p.E1787Q

c.5359G>C

1 paper

NM_000257.4

p.M1786T

c.5357T>C

2 papers

NM_000257.4

p.M1786V

c.5356A>G

11 papers

NM_000257.4

p.K1784del1

c.5350_5351delCTT

28 papers

NM_000257.4

p.L1793P

c.5378T>C

1 paper

NM_000257.4

p.M1782del1

c.5344_5345delCAT

1 paper

NM_000257.4

p.M1782I

c.5346G>T

1 paper

NM_000257.4

p.M1782I

c.5346G>C

1 paper

NM_000257.4

p.M1782I

c.5346G>A

7 papers

NM_000257.4

p.Q1794E

c.5380C>G

8 papers

NM_000257.4

p.Q1794K

c.5380C>A