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

1 paper

NM_002470.4

p.F287L

c.861C>G

Surrounding Variants

1 paper

NM_002470.4

p.F287L

c.861C>A

4 papers

NM_002470.4

p.F287V

c.859T>G

1 paper

NM_002470.4

p.F287L

c.859T>C

1 paper

NM_002470.4

p.Q289P

c.866A>C

1 paper

NM_002470.4

p.Q289H

c.867G>T

1 paper

NM_002470.4

p.Q289H

c.867G>C

1 paper

NM_002470.4

p.H285Y

c.853C>T

1 paper

NM_002470.4

p.Y284C

c.851A>G

9 papers

NM_002470.4

p.S292C

c.875C>G

3 papers

NM_002470.4

p.E281K

c.841G>A

1 paper

NM_002470.4

p.V274A

c.821T>C

1 paper

NM_002470.4

p.V274D

c.821T>A