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.E846_K847del2

c.2536_2540del6

Surrounding Variants

13 papers

NM_000257.4

p.M849T

c.2546T>C

1 paper

NM_000257.4

p.E848del1

c.2542_2544delCTC

6 papers

NM_000257.4

p.E848D

c.2544G>T

6 papers

NM_000257.4

p.E848D

c.2544G>C

1 paper

NM_000257.4

p.A850P

c.2548G>C

8 papers

NM_000257.4

p.A850T

c.2548G>A

1 paper

NM_000257.4

p.A850V

c.2549C>T

5 papers

NM_000257.4

p.A850D

c.2549C>A

1 paper

NM_000257.4

p.E848V

c.2543A>T

37 papers

NM_000257.4

p.E848G

c.2543A>G

1 paper

NM_000257.4

p.E848Q

c.2542G>C

1 paper

NM_000257.4

p.E848K

c.2542G>A