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.N726K

c.2178C>G

Surrounding Variants

3 papers

NM_000257.4

p.N726K

c.2178C>A

1 paper

NM_000257.4

p.L725R

c.2174T>G

10 papers

NM_000257.4

p.A728V

c.2183C>T

4 papers

NM_000257.4

p.I724T

c.2171T>C

5 papers

NM_000257.4

p.I724N

c.2171T>A

6 papers

NM_000257.4

p.A729P

c.2185G>C

2 papers

NM_000257.4

p.R723R

c.2169C>G

5 papers

NM_000257.4

p.R723H

c.2168G>A

1 paper

NM_000257.4

p.I730L

c.2188A>C

4 papers

NM_000257.4

p.I730T

c.2189T>C

4 papers

NM_000257.4

p.I730N

c.2189T>A

80 papers

NM_000257.4

p.R723C

c.2167C>T