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.F278L

c.834C>A

Surrounding Variants

1 paper

NM_005963.4

p.F278L

c.834C>G

1 paper

NM_005963.4

p.F278L

c.832T>C

1 paper

NM_005963.4

p.E283K

c.847G>A

1 paper

NM_005963.4

p.Y290fs

c.868_869fs

3 papers

NM_005963.4

p.Y290insFs

c.868dupT

1 paper

NM_005963.4

p.Y290fs

c.868_869fs

1 paper

NM_005963.4

p.D312N

c.934G>A

1 paper

NM_005963.4

p.V316F

c.946G>T

1 paper

NM_005963.4

p.Q329H

c.987A>T

1 paper

NM_005963.4

p.A338T

c.1012G>A

1 paper

NM_005963.4

p.E348K

c.1042G>A

2 papers

NM_005963.4

p.M360I

c.1080G>T