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.E924Q

c.2770G>C

Surrounding Variants

63 papers

NM_000257.4

p.E924K

c.2770G>A

1 paper

NM_000257.4

p.N923N

c.2769C>T

3 papers

NM_000257.4

p.E924G

c.2771A>G

1 paper

NM_000257.4

p.N923I

c.2768A>T

1 paper

NM_000257.4

p.R925G

c.2773A>G

1 paper

NM_000257.4

p.M922K

c.2765T>A

1 paper

NM_000257.4

p.R925S

c.2775G>T

1 paper

NM_000257.4

p.R925S

c.2775G>C

3 papers

NM_000257.4

p.L926V

c.2776C>G

1 paper

NM_000257.4

p.E921del1

c.2761_2763delCTC

1 paper

NM_000257.4

p.E921A

c.2762A>C

1 paper

NM_000257.4

p.E927Q

c.2779G>C