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

1 paper

NM_000257.4

p.R719_Q720insFs

c.2156_2159dup4

Surrounding Variants

5 papers

NM_000257.4

p.R721K

c.2162G>A

2 papers

NM_000257.4

p.R719L

c.2156G>T

7 papers

NM_000257.4

p.R719P

c.2156G>C

128 papers

NM_000257.4

p.R719Q

c.2156G>A

1 paper

NM_000257.4

p.R721Splc

c.2162+4G>A

187 papers

NM_000257.4

p.R719W

c.2155C>T

5 papers

NM_000257.4

p.R719G

c.2155C>G

1 paper

NM_000257.4

p.R721Splc

c.2162+8T>A

2 papers

NM_000257.4

p.D717V

c.2150A>T

3 papers

NM_000257.4

p.D717G

c.2150A>G

1 paper

NM_000257.4

p.D717A

c.2150A>C

2 papers

NM_000257.4

p.D717N

c.2149G>A