Varaico: Literature-Extracted Genetic Variants

MYH1

233 papers

RefSeq Summary

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH)...

Pfam Domains

Myosin_Naa 33–77UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 88–770UCSCMyosin head (motor domain)

Myosin_tail_1aa 847–1928UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 1

HGNC Alias Symbols

MYHSA1; MYHa; MyHC-2X/D; MGC133384

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005963.4

p.K744T

c.2231A>C

Surrounding Variants

1 paper

NM_005963.4

p.D754V

c.2261A>T

1 paper

NM_005963.4

p.L729fs

c.2185_2186fs

1 paper

NM_005963.4

p.K766_V767Splc

c.2299-1G>T

1 paper

NM_005963.4

p.E779K

c.2335G>A

2 papers

NM_005963.4

p.R791Q

c.2372G>A

1 paper

NM_005963.4

p.T792N

c.2375C>A

1 paper

NM_005963.4

p.R812Splc

c.2435+1G>T

1 paper

NM_005963.4

p.E813Q

c.2437G>C

1 paper

NM_005963.4

p.E813V

c.2438A>T

1 paper

NM_005963.4

p.I818I

c.2454C>A

1 paper

NM_005963.4

p.E704G

c.2111A>G

1 paper

NM_005963.4

p.E704K

c.2110G>A