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

28 papers

NM_000257.4

p.L1793P

c.5378T>C

Surrounding Variants

7 papers

NM_000257.4

p.Q1794E

c.5380C>G

8 papers

NM_000257.4

p.Q1794K

c.5380C>A

1 paper

NM_000257.4

p.Q1794R

c.5381A>G

4 papers

NM_000257.4

p.L1793del1

c.5377_5378delCAG

3 papers

NM_000257.4

p.Q1794Q

c.5382G>A

2 papers

NM_000257.4

p.R1796W

c.5386C>T

1 paper

NM_000257.4

p.R1796L

c.5387G>T

1 paper

NM_000257.4

p.R1796Q

c.5387G>A

2 papers

NM_000257.4

p.L1797P

c.5390T>C

1 paper

NM_000257.4

p.T1789N

c.5366C>A

1 paper

NM_000257.4

p.Q1788R

c.5363A>G

6 papers

NM_000257.4

p.E1799K

c.5395G>A