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.A844V

c.2531C>T

Surrounding Variants

2 papers

NM_002470.4

p.A844A

c.2532A>G

4 papers

NM_002470.4

p.L841del1

c.2521_2522delGAG

6 papers

NM_002470.4

p.K838E

c.2512A>G

1 paper

NM_002470.4

p.A851S

c.2551G>T

2 papers

NM_002470.4

p.K836E

c.2506A>G

4 papers

NM_002470.4

p.F835del1

c.2503_2504delGAA

1 paper

NM_002470.4

p.M853I

c.2559G>T

1 paper

NM_002470.4

p.M853I

c.2559G>C

1 paper

NM_002470.4

p.M853I

c.2559G>A

1 paper

NM_002470.4

p.E847_M853ins2

c.2539_2559dup21

1 paper

NM_002470.4

p.F834S

c.2501T>C

1 paper

NM_002470.4

p.K861E

c.2581A>G