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

3 papers

NM_000257.4

p.Q895H

c.2685A>C

Surrounding Variants

2 papers

NM_000257.4

p.Q895H

c.2685A>T

4 papers

NM_000257.4

p.D896N

c.2686G>A

4 papers

NM_000257.4

p.Q895E

c.2683C>G

4 papers

NM_000257.4

p.Q895K

c.2683C>A

1 paper

NM_000257.4

p.D896G

c.2687A>G

5 papers

NM_000257.4

p.E894D

c.2682A>T

1 paper

NM_000257.4

p.E894E

c.2682A>G

5 papers

NM_000257.4

p.E894D

c.2682A>C

27 papers

NM_000257.4

p.E894G

c.2681A>G

6 papers

NM_000257.4

p.E894K

c.2680G>A

1 paper

NM_000257.4

p.A893_E894Splc

c.2680-1G>A

2 papers

NM_000257.4

p.N897N

c.2691C>T