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

2 papers

NM_000257.4

p.M531T

c.1592T>C

Surrounding Variants

13 papers

NM_000257.4

p.M531R

c.1592T>G

43 papers

NM_000257.4

p.S532P

c.1594T>C

1 paper

NM_000257.4

p.S532F

c.1595C>T

4 papers

NM_000257.4

p.I530V

c.1588A>G

7 papers

NM_000257.4

p.I533V

c.1597A>G

1 paper

NM_000257.4

p.I533N

c.1598T>A

1 paper

NM_000257.4

p.M528K

c.1583T>A

1 paper

NM_000257.4

p.M528V

c.1582A>G

1 paper

NM_000257.4

p.E535Q

c.1603G>C

2 papers

NM_000257.4

p.P527L

c.1580C>T

1 paper

NM_000257.4

p.P527T

c.1579C>A

2 papers

NM_000257.4

p.E535E

c.1605A>G