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.E813V

c.2438A>T

Surrounding Variants

1 paper

NM_005963.4

p.E813Q

c.2437G>C

1 paper

NM_005963.4

p.I818I

c.2454C>A

1 paper

NM_005963.4

p.R823L

c.2468G>T

1 paper

NM_005963.4

p.H830Q

c.2490C>G

2 papers

NM_005963.4

p.P832R

c.2495C>G

1 paper

NM_005963.4

p.Y837fs

c.2509_2510fs

1 paper

NM_005963.4

p.Y837*

c.2511T>G

1 paper

NM_005963.4

p.Y837*

c.2511T>A

1 paper

NM_005963.4

p.R812Splc

c.2435+1G>T

1 paper

NM_005963.4

p.E848G

c.2543A>G

1 paper

NM_005963.4

p.E848delFs

c.2542delC

1 paper

NM_005963.4

p.A847_M853ins2

c.2539_2559dup21