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.L950F

c.2848C>T

Surrounding Variants

11 papers

NM_000257.4

p.E949V

c.2846A>T

13 papers

NM_000257.4

p.E949K

c.2845G>A

1 paper

NM_000257.4

p.L950insFs

c.2850dupC

1 paper

NM_000257.4

p.K951R

c.2852A>G

2 papers

NM_000257.4

p.C947*

c.2841C>A

4 papers

NM_000257.4

p.D953H

c.2857G>C

1 paper

NM_000257.4

p.D953V

c.2858A>T

1 paper

NM_000257.4

p.E946K

c.2836G>A

2 papers

NM_000257.4

p.I954V

c.2860A>G

1 paper

NM_000257.4

p.I954M

c.2862C>G

24 papers

NM_000257.4

p.D955N

c.2863G>A

1 paper

NM_000257.4

p.D956N

c.2866G>A