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.D42V

c.125A>T

Surrounding Variants

1 paper

NM_005963.4

p.V38I

c.112G>A

2 papers

NM_005963.4

p.F47S

c.140T>C

1 paper

NM_005963.4

p.F47Y

c.140T>A

1 paper

NM_005963.4

p.D33G

c.98A>G

2 papers

NM_005963.4

p.P31L

c.92C>T

1 paper

NM_005963.4

p.R24P

c.71G>C

1 paper

NM_005963.4

p.R24Q

c.71G>A

2 papers

NM_005963.4

p.R24*

c.70C>T

1 paper

NM_005963.4

p.A62G

c.185C>G

1 paper

NM_005963.4

p.E21V

c.62A>T

1 paper

NM_005963.4

p.F16C

c.47T>G

1 paper

NM_005963.4

p.F16I

c.46T>A