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

6 papers

NM_000257.4

p.S738R

c.2214C>G

Surrounding Variants

6 papers

NM_000257.4

p.S738R

c.2214C>A

4 papers

NM_000257.4

p.S738T

c.2213G>C

2 papers

NM_000257.4

p.S738N

c.2213G>A

1 paper

NM_000257.4

p.R739M

c.2216G>T

2 papers

NM_000257.4

p.S738C

c.2212A>T

6 papers

NM_000257.4

p.S738R

c.2212A>C

4 papers

NM_000257.4

p.R739S

c.2217G>T

3 papers

NM_000257.4

p.R739S

c.2217G>C

1 paper

NM_000257.4

p.K740E

c.2218A>G

1 paper

NM_000257.4

p.D737N

c.2209G>A

5 papers

NM_000257.4

p.I736M

c.2208T>G

5 papers

NM_000257.4

p.K740N

c.2220G>T