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

5 papers

NM_000257.4

p.A550V

c.1649C>T

Surrounding Variants

1 paper

NM_000257.4

p.K551N

c.1653G>T

1 paper

NM_000257.4

p.K551N

c.1653G>C

1 paper

NM_000257.4

p.K549E

c.1645A>G

1 paper

NM_000257.4

p.F548delFs

c.1643delA

2 papers

NM_000257.4

p.T547I

c.1640C>T

2 papers

NM_000257.4

p.T547N

c.1640C>A

2 papers

NM_000257.4

p.D554Y

c.1660G>T

1 paper

NM_000257.4

p.D554E

c.1662C>G

1 paper

NM_000257.4

p.D554E

c.1662C>A

21 papers

NM_000257.4

p.D545N

c.1633G>A

1 paper

NM_000257.4

p.N555_H556ins1

c.1665_1666insTCG

4 papers

NM_000257.4

p.T544A

c.1630A>G