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.K1244Q

c.3730A>C

Surrounding Variants

1 paper

NM_005963.4

p.E1206K

c.3616G>A

1 paper

NM_005963.4

p.A1193fs

c.3577_3578fs

1 paper

NM_005963.4

p.A1193A

c.3579G>A

1 paper

NM_005963.4

p.A1193insFs

c.3577dupG

1 paper

NM_005963.4

p.Q1188K

c.3562C>A

1 paper

NM_005963.4

p.L1182P

c.3545T>C

1 paper

NM_005963.4

p.R1171Q

c.3512G>A

1 paper

NM_005963.4

p.G1158S

c.3472G>A

1 paper

NM_005963.4

p.I1150M

c.3450C>G

1 paper

NM_005963.4

p.E1149Q

c.3445G>C

3 papers

NM_005963.4

p.R1140C

c.3418C>T

1 paper

NM_005963.4

p.S1132F

c.3395C>T