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.E700G

c.2099A>G

Surrounding Variants

2 papers

NM_000257.4

p.E700A

c.2099A>C

1 paper

NM_000257.4

p.E700D

c.2100G>T

3 papers

NM_000257.4

p.C695_L699insFs

c.2085_2097dup13

3 papers

NM_000257.4

p.E700fs

c.2098_2099fs

3 papers

NM_000257.4

p.G701S

c.2101G>A

2 papers

NM_000257.4

p.G701D

c.2102G>A

3 papers

NM_000257.4

p.V698V

c.2094G>A

1 paper

NM_000257.4

p.I702F

c.2104A>T

7 papers

NM_000257.4

p.I702V

c.2104A>G

12 papers

NM_000257.4

p.V698A

c.2093T>C

8 papers

NM_000257.4

p.I702N

c.2105T>A

1 paper

NM_000257.4

p.V698L

c.2092G>T