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

3 papers

NM_000257.4

p.S148R

c.442A>C

Surrounding Variants

2 papers

NM_000257.4

p.S148I

c.443G>T

1 paper

NM_000257.4

p.R147S

c.441G>T

1 paper

NM_000257.4

p.R147S

c.441G>C

1 paper

NM_000257.4

p.R147M

c.440G>T

3 papers

NM_000257.4

p.S148R

c.444C>G

3 papers

NM_000257.4

p.S148R

c.444C>A

2 papers

NM_000257.4

p.E149K

c.445G>A

13 papers

NM_000257.4

p.K146N

c.438G>T

12 papers

NM_000257.4

p.K146N

c.438G>C

1 paper

NM_000257.4

p.E149G

c.446A>G

1 paper

NM_000257.4

p.K146E

c.436A>G

2 papers

NM_000257.4

p.K145K

c.435G>A