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

2 papers

NM_002470.4

p.N662_R664delFs

c.1986_1990del5

Surrounding Variants

1 paper

NM_002470.4

p.N662fs

c.1984_1985fs

2 papers

NM_002470.4

p.N662fs

c.1984_1985fs

1 paper

NM_002470.4

p.H667Q

c.2001C>G

1 paper

NM_002470.4

p.H667Q

c.2001C>A

1 paper

NM_002470.4

p.F670F

c.2010T>C

27 papers

NM_002470.4

p.R672C

c.2014C>T

33 papers

NM_002470.4

p.R672H

c.2015G>A

1 paper

NM_002470.4

p.P676A

c.2026C>G

1 paper

NM_002470.4

p.N677S

c.2030A>G

1 paper

NM_002470.4

p.G683E

c.2048G>A

1 paper

NM_002470.4

p.R695W

c.2083C>T

1 paper

NM_002470.4

p.R695L

c.2084G>T