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

2 papers

NM_000257.4

p.F735fs

c.2203_2204fs

Surrounding Variants

1 paper

NM_000257.4

p.G733_Q734del0

c.2197_2202del6

2 papers

NM_000257.4

p.Q734insFs

c.2201dupA

1 paper

NM_000257.4

p.Q734L

c.2201A>T

11 papers

NM_000257.4

p.Q734P

c.2201A>C

11 papers

NM_000257.4

p.Q734E

c.2200C>G

4 papers

NM_000257.4

p.I736V

c.2206A>G

1 paper

NM_000257.4

p.I736L

c.2206A>C

78 papers

NM_000257.4

p.I736T

c.2207T>C

5 papers

NM_000257.4

p.I736M

c.2208T>G

1 paper

NM_000257.4

p.G733V

c.2198G>T

14 papers

NM_000257.4

p.G733E

c.2198G>A

1 paper

NM_000257.4

p.G733_Q734ins4

c.2197_2201ins12