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.N480S

c.1439A>G

Surrounding Variants

1 paper

NM_002470.4

p.N483S

c.1448A>G

1 paper

NM_002470.4

p.E484D

c.1452G>T

1 paper

NM_002470.4

p.E484D

c.1452G>C

1 paper

NM_002470.4

p.E475E

c.1425G>A

1 paper

NM_002470.4

p.N472N

c.1416C>T

8 papers

NM_002470.4

p.E498G

c.1493A>G

1 paper

NM_002470.4

p.E501K

c.1501G>A

1 paper

NM_002470.4

p.Y502D

c.1504T>G

4 papers

NM_002470.4

p.K504N

c.1512G>T

4 papers

NM_002470.4

p.K504N

c.1512G>C

1 paper

NM_002470.4

p.Y502_E505del4

c.1504_1514del12

1 paper

NM_002470.4

p.T510M

c.1529C>T