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

252 papers

NM_000257.4

p.R453C

c.1357C>T

Surrounding Variants

1 paper

NM_000257.4

p.R453G

c.1357C>G

11 papers

NM_000257.4

p.R453S

c.1357C>A

1 paper

NM_000257.4

p.R453L

c.1358G>T

2 papers

NM_000257.4

p.R453P

c.1358G>C

29 papers

NM_000257.4

p.R453H

c.1358G>A

1 paper

NM_000257.4

p.Q454*

c.1360C>T

1 paper

NM_000257.4

p.P452fs

c.1354_1355fs

1 paper

NM_000257.4

p.Q451P

c.1352A>C

1 paper

NM_000257.4

p.Y455_F456insC

c.1363_1367ins3

1 paper

NM_000257.4

p.Q451K

c.1351C>A

5 papers

NM_000257.4

p.K450N

c.1350G>T

5 papers

NM_000257.4

p.K450N

c.1350G>C