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.T69S

c.206C>G

Surrounding Variants

1 paper

NM_005963.4

p.M80L

c.238A>T

1 paper

NM_005963.4

p.M80L

c.238A>C

1 paper

NM_005963.4

p.M80I

c.240G>A

2 papers

NM_005963.4

p.P82S

c.244C>T

1 paper

NM_005963.4

p.P83T

c.247C>A

1 paper

NM_005963.4

p.I88T

c.263T>C

1 paper

NM_005963.4

p.D90A

c.269A>C

1 paper

NM_005963.4

p.H98Q

c.294C>G

1 paper

NM_005963.4

p.H98Q

c.294C>A

1 paper

NM_005963.4

p.A62G

c.185C>G

1 paper

NM_005963.4

p.R109C

c.325C>T

1 paper

NM_005963.4

p.W113*

c.338G>A