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

86 papers

NM_000257.4

p.G716R

c.2146G>C

Surrounding Variants

1 paper

NM_000257.4

p.G716W

c.2146G>T

87 papers

NM_000257.4

p.G716R

c.2146G>A

3 papers

NM_000257.4

p.G716A

c.2147G>C

2 papers

NM_000257.4

p.G716E

c.2147G>A

1 paper

NM_000257.4

p.Y715H

c.2143T>C

2 papers

NM_000257.4

p.D717N

c.2149G>A

2 papers

NM_000257.4

p.D717V

c.2150A>T

3 papers

NM_000257.4

p.D717G

c.2150A>G

1 paper

NM_000257.4

p.D717A

c.2150A>C

3 papers

NM_000257.4

p.L714R

c.2141T>G

1 paper

NM_000257.4

p.L714P

c.2141T>C

2 papers

NM_000257.4

p.L714I

c.2140C>A