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

8 papers

NM_000257.4

p.R1863Q

c.5588G>A

Surrounding Variants

4 papers

NM_000257.4

p.R1863W

c.5587C>T

4 papers

NM_000257.4

p.Q1865P

c.5594A>C

1 paper

NM_000257.4

p.N1860K

c.5580C>G

1 paper

NM_000257.4

p.N1860K

c.5580C>A

1 paper

NM_000257.4

p.D1866A

c.5597A>C

1 paper

NM_000257.4

p.R1858_K1859del2

c.5572_5576del6

1 paper

NM_000257.4

p.R1858M

c.5573G>T

1 paper

NM_000257.4

p.D1857E

c.5571C>G

1 paper

NM_000257.4

p.D1857E

c.5571C>A

5 papers

NM_000257.4

p.D1869G

c.5606A>G

1 paper

NM_000257.4

p.D1857A

c.5570A>C

11 papers

NM_000257.4

p.E1856K

c.5566G>A