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

4 papers

NM_000257.4

p.R17H

c.50G>A

Surrounding Variants

1 paper

NM_000257.4

p.R17L

c.50G>T

8 papers

NM_000257.4

p.R17C

c.49C>T

1 paper

NM_000257.4

p.R17insFs

c.50_51ins11

1 paper

NM_000257.4

p.S19L

c.56C>T

1 paper

NM_000257.4

p.Y15delFs

c.43delA

1 paper

NM_000257.4

p.P14delFs

c.42delG

8 papers

NM_000257.4

p.S19S

c.57A>G

1 paper

NM_000257.4

p.P14P

c.42C>G

1 paper

NM_000257.4

p.K21insFs

c.61_62insCT

1 paper

NM_000257.4

p.A13V

c.38C>T

2 papers

NM_000257.4

p.A13S

c.37G>T

2 papers

NM_000257.4

p.K21_E22insFs

c.63_64insC