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

54 papers

NM_000257.4

p.G768R

c.2302G>C

Surrounding Variants

54 papers

NM_000257.4

p.G768R

c.2302G>A

1 paper

NM_000257.4

p.L769fs

c.2305_2306fs

2 papers

NM_000257.4

p.G768delFs

c.2304delC

1 paper

NM_000257.4

p.L769P

c.2306T>C

1 paper

NM_000257.4

p.K766N

c.2298G>T

1 paper

NM_000257.4

p.K766_A767insFs

c.2298_2299insC

1 paper

NM_000257.4

p.K766N

c.2298G>C

1 paper

NM_000257.4

p.L769L

c.2307G>T

1 paper

NM_000257.4

p.L769L

c.2307G>C

1 paper

NM_000257.4

p.K766M

c.2297A>T

1 paper

NM_000257.4

p.K766*

c.2296A>T

7 papers

NM_000257.4

p.K766Q

c.2296A>C