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

39 papers

NM_000257.4

p.M982T

c.2945T>C

Surrounding Variants

1 paper

NM_000257.4

p.A983G

c.2948C>G

1 paper

NM_000257.4

p.D986H

c.2956G>C

2 papers

NM_000257.4

p.E987K

c.2959G>A

2 papers

NM_000257.4

p.I988V

c.2962A>G

1 paper

NM_000257.4

p.I988S

c.2963T>G

1 paper

NM_000257.4

p.K976I

c.2927A>T

1 paper

NM_000257.4

p.K976E

c.2926A>G

9 papers

NM_000257.4

p.I989I

c.2967T>C

3 papers

NM_000257.4

p.A990T

c.2968G>A

1 paper

NM_000257.4

p.K974_V975Splc

c.2923-2A>G

1 paper

NM_000257.4

p.K991R

c.2972A>G

3 papers

NM_000257.4

p.K991N

c.2973G>T