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.R712G

c.2134C>G

Surrounding Variants

3 papers

NM_000257.4

p.R712C

c.2134C>T

1 paper

NM_000257.4

p.R712S

c.2134C>A

22 papers

NM_000257.4

p.R712L

c.2135G>T

8 papers

NM_000257.4

p.R712H

c.2135G>A

1 paper

NM_000257.4

p.N711K

c.2133C>A

7 papers

NM_000257.4

p.P710L

c.2129C>T

24 papers

NM_000257.4

p.P710R

c.2129C>G

12 papers

NM_000257.4

p.P710H

c.2129C>A

1 paper

NM_000257.4

p.P710S

c.2128C>T

2 papers

NM_000257.4

p.P710A

c.2128C>G

2 papers

NM_000257.4

p.L714I

c.2140C>A

3 papers

NM_000257.4

p.L714R

c.2141T>G