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

80 papers

NM_000257.4

p.R723C

c.2167C>T

Surrounding Variants

101 papers

NM_000257.4

p.R723G

c.2167C>G

1 paper

NM_000257.4

p.R723S

c.2167C>A

5 papers

NM_000257.4

p.R723H

c.2168G>A

2 papers

NM_000257.4

p.R723R

c.2169C>G

4 papers

NM_000257.4

p.I724T

c.2171T>C

5 papers

NM_000257.4

p.I724N

c.2171T>A

1 paper

NM_000257.4

p.R721S

c.2163G>T

1 paper

NM_000257.4

p.R721S

c.2163G>C

12 papers

NM_000257.4

p.R721K

c.2162G>A

1 paper

NM_000257.4

p.R721W

c.2161A>T

1 paper

NM_000257.4

p.L725R

c.2174T>G

2 papers

NM_000257.4

p.N726K

c.2178C>G