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.Q564*

c.1690C>T

Surrounding Variants

1 paper

NM_000257.4

p.Q564R

c.1691A>G

6 papers

NM_000257.4

p.N562K

c.1686C>G

6 papers

NM_000257.4

p.N562K

c.1686C>A

4 papers

NM_000257.4

p.A561T

c.1681G>A

5 papers

NM_000257.4

p.R567C

c.1699C>T

7 papers

NM_000257.4

p.R567H

c.1700G>A

1 paper

NM_000257.4

p.S560F

c.1679C>T

1 paper

NM_000257.4

p.S560C

c.1679C>G

1 paper

NM_000257.4

p.K559insFs

c.1675dupA

1 paper

NM_000257.4

p.S560A

c.1678T>G

1 paper

NM_000257.4

p.S560T

c.1678T>A

1 paper

NM_000257.4

p.R567delFs

c.1700_1701delGC