Varaico: Literature-Extracted Genetic Variants

MYH1

233 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 88–770UCSCMyosin head (motor domain)

Myosin_tail_1aa 847–1928UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 1

HGNC Alias Symbols

MYHSA1; MYHa; MyHC-2X/D; MGC133384

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005963.4

p.G532_F534del3

c.1594_1601del9

Surrounding Variants

1 paper

NM_005963.4

p.F534Y

c.1601T>A

1 paper

NM_005963.4

p.C541R

c.1621T>C

1 paper

NM_005963.4

p.S563F

c.1688C>T

1 paper

NM_005963.4

p.K568N

c.1704G>T

1 paper

NM_005963.4

p.K568N

c.1704G>C

1 paper

NM_005963.4

p.K573*

c.1717A>T

1 paper

NM_005963.4

p.G595S

c.1783G>A

1 paper

NM_005963.4

p.K601T

c.1802A>C

1 paper

NM_005963.4

p.P603L

c.1808C>T

1 paper

NM_005963.4

p.V608V

c.1824G>T

1 paper

NM_005963.4

p.V609M

c.1825G>A

1 paper

NM_005963.4

p.L620V

c.1858C>G