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

13 papers

NM_000257.4

p.K351E

c.1051A>G

Surrounding Variants

1 paper

NM_000257.4

p.K351*

c.1051A>T

2 papers

NM_000257.4

p.K351N

c.1053G>T

2 papers

NM_000257.4

p.K351N

c.1053G>C

6 papers

NM_000257.4

p.Y350D

c.1048T>G

6 papers

NM_000257.4

p.Y350N

c.1048T>A

1 paper

NM_000257.4

p.L352P

c.1055T>C

11 papers

NM_000257.4

p.M349T

c.1046T>C

5 papers

NM_000257.4

p.M349V

c.1045A>G

1 paper

NM_000257.4

p.T353R

c.1058C>G

1 paper

NM_000257.4

p.S348Y

c.1043C>A

8 papers

NM_000257.4

p.G354S

c.1060G>A

1 paper

NM_000257.4

p.K346_N347del1

c.1038_1040delTTT