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

1–12 of 419 variants

33 papers

NM_002470.4

p.R672H

c.2015G>A

27 papers

NM_002470.4

p.R672C

c.2014C>T

18 papers

NM_002470.4

p.T178I

c.533C>T

14 papers

NM_002470.4

p.E375K

c.1123G>A

12 papers

NM_002470.4

p.A1637V

c.4910C>T

10 papers

NM_002470.4

p.A234T

c.700G>A

10 papers

NM_002470.4

p.Y583S

c.1748A>C

9 papers

NM_002470.4

p.S292C

c.875C>G

8 papers

NM_002470.4

p.E498G

c.1493A>G

7 papers

NM_002470.4

p.D517Y

c.1549G>T

7 papers

NM_002470.4

p.G769V

c.2306G>T

7 papers

NM_002470.4

p.V825D

c.2474T>A