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.P40_D42del3

c.118_125del9

Surrounding Variants

1 paper

NM_000257.4

p.K43E

c.127A>G

1 paper

NM_000257.4

p.K43N

c.129A>T

1 paper

NM_000257.4

p.K43N

c.129A>C

4 papers

NM_000257.4

p.Q44*

c.130C>T

1 paper

NM_000257.4

p.E45*

c.133G>T

1 paper

NM_000257.4

p.E45Q

c.133G>C

3 papers

NM_000257.4

p.D41N

c.121G>A

1 paper

NM_000257.4

p.P40P

c.120T>C

1 paper

NM_000257.4

p.E45G

c.134A>G

1 paper

NM_000257.4

p.E45D

c.135G>T

1 paper

NM_000257.4

p.E45_F46insFs

c.135_136insC

1 paper

NM_000257.4

p.E45D

c.135G>C