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.K974_V975Splc

c.2922+82C>T

Surrounding Variants

1 paper

NM_000257.4

p.K974_V975Splc

c.2922+37A>G

1 paper

NM_000257.4

p.K974_V975Splc

c.2923-34T>G

1 paper

NM_000257.4

p.K974_V975Splc

c.2922+1G>A

3 papers

NM_000257.4

p.K974_V975Splc

c.2923-18G>A

2 papers

NM_000257.4

p.K974_V975Splc

c.2923-14T>G

1 paper

NM_000257.4

p.A970V

c.2909C>T

1 paper

NM_000257.4

p.A970S

c.2908G>T

2 papers

NM_000257.4

p.A970T

c.2908G>A

1 paper

NM_000257.4

p.H969Q

c.2907C>G

1 paper

NM_000257.4

p.H969Q

c.2907C>A

2 papers

NM_000257.4

p.H969P

c.2906A>C

1 paper

NM_000257.4

p.H969Y

c.2905C>T