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.D928G

c.2783A>G

Surrounding Variants

7 papers

NM_000257.4

p.D928V

c.2783A>T

2 papers

NM_000257.4

p.D928A

c.2783A>C

3 papers

NM_000257.4

p.E927del1

c.2779_2780delCTC

19 papers

NM_000257.4

p.D928N

c.2782G>A

1 paper

NM_000257.4

p.E929*

c.2785G>T

12 papers

NM_000257.4

p.E929K

c.2785G>A

2 papers

NM_000257.4

p.E929G

c.2786A>G

1 paper

NM_000257.4

p.E929A

c.2786A>C

1 paper

NM_000257.4

p.E927Q

c.2779G>C

15 papers

NM_000257.4

p.E927K

c.2779G>A

2 papers

NM_000257.4

p.E930*

c.2788G>T

11 papers

NM_000257.4

p.E930Q

c.2788G>C