Varaico: Literature-Extracted Genetic Variants

MYH3

291 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 88–767UCSCMyosin head (motor domain)

Myosin_tail_1aa 844–1925UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 3

HGNC Alias Symbols

MYHC-EMB; MYHSE1; HEMHC; SMHCE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

18 papers

NM_002470.4

p.T178I

c.533C>T

Surrounding Variants

1 paper

NM_002470.4

p.G182A

c.545G>C

2 papers

NM_002470.4

p.A183P

c.547G>C

4 papers

NM_002470.4

p.G184A

c.551G>C

1 paper

NM_002470.4

p.R191Q

c.572G>A

1 paper

NM_002470.4

p.A197T

c.589G>A

1 paper

NM_002470.4

p.A197V

c.590C>T

1 paper

NM_002470.4

p.T198R

c.593C>G

2 papers

NM_002470.4

p.A201V

c.602C>T

1 paper

NM_002470.4

p.G203fs

c.607_608fs

1 paper

NM_002470.4

p.G203fs

c.607_608fs

1 paper

NM_002470.4

p.T178Splc

c.533+1G>A

3 papers

NM_002470.4

p.T178I

c.533C>T