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.I274T

c.821T>C

Surrounding Variants

1 paper

NM_000257.4

p.I274F

c.820A>T

2 papers

NM_000257.4

p.I274V

c.820A>G

1 paper

NM_000257.4

p.Q276K

c.826C>A

1 paper

NM_000257.4

p.R272T

c.815G>C

1 paper

NM_000257.4

p.L277V

c.829C>G

2 papers

NM_000257.4

p.L277P

c.830T>C

1 paper

NM_000257.4

p.S271F

c.812C>T

1 paper

NM_000257.4

p.S271P

c.811T>C

4 papers

NM_000257.4

p.K278I

c.833A>T

5 papers

NM_000257.4

p.K270R

c.809A>G

3 papers

NM_000257.4

p.A279T

c.835G>A

1 paper

NM_000257.4

p.A279delFs

c.835delC