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

10 papers

NM_002470.4

p.Y583S

c.1748A>C

Surrounding Variants

1 paper

NM_002470.4

p.A584V

c.1751C>T

1 paper

NM_002470.4

p.A584E

c.1751C>A

1 paper

NM_002470.4

p.V587M

c.1759G>A

1 paper

NM_002470.4

p.A576T

c.1726G>A

1 paper

NM_002470.4

p.R573R

c.1719G>A

1 paper

NM_002470.4

p.R573M

c.1718G>T

1 paper

NM_002470.4

p.W594C

c.1782G>T

1 paper

NM_002470.4

p.W594C

c.1782G>C

1 paper

NM_002470.4

p.S561delFs

c.1681_1682delGA

1 paper

NM_002470.4

p.K560N

c.1680G>T

1 paper

NM_002470.4

p.K560N

c.1680G>C

1 paper

NM_002470.4

p.V606M

c.1816G>A