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.N241S

c.722A>G

Surrounding Variants

2 papers

NM_002470.4

p.N241D

c.721A>G

1 paper

NM_002470.4

p.S242Fs

c.725delinsAAFs

1 paper

NM_002470.4

p.S242delins

c.724_725delinsAA

1 paper

NM_002470.4

p.N241_S242delins

c.721_725delinsGACAA

1 paper

NM_002470.4

p.N239insFs

c.716dupA

1 paper

NM_002470.4

p.R244C

c.730C>T

1 paper

NM_002470.4

p.R244S

c.730C>A

6 papers

NM_002470.4

p.S243del1

c.727_728delGGA

1 paper

NM_002470.4

p.R244H

c.731G>A

1 paper

NM_002470.4

p.F245F

c.735T>C

10 papers

NM_002470.4

p.A234T

c.700G>A

1 paper

NM_002470.4

p.I222T

c.665T>C