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

1–12 of 308 variants

4 papers

NM_005963.4

p.K432T

c.1295A>C

4 papers

NM_005963.4

p.Y435H

c.1303T>C

4 papers

NM_005963.4

p.G640S

c.1918G>A

3 papers

NM_005963.4

p.Y290insFs

c.868dupT

3 papers

NM_005963.4

p.M688V

c.2062A>G

3 papers

NM_005963.4

p.R1140C

c.3418C>T

2 papers

NM_005963.4

p.R24*

c.70C>T

2 papers

NM_005963.4

p.P31L

c.92C>T

2 papers

NM_005963.4

p.F47S

c.140T>C

2 papers

NM_005963.4

p.P82S

c.244C>T

2 papers

NM_005963.4

p.M360I

c.1080G>T

2 papers

NM_005963.4

p.M360I

c.1080G>C