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

4 papers

NM_002470.4

p.Y351*

c.1053C>G

Surrounding Variants

4 papers

NM_002470.4

p.Y351*

c.1053C>A

1 paper

NM_002470.4

p.K352N

c.1056G>T

1 paper

NM_002470.4

p.K352N

c.1056G>C

1 paper

NM_002470.4

p.S348F

c.1043C>T

1 paper

NM_002470.4

p.P344_G355del12

c.1030_1064del36

1 paper

NM_002470.4

p.V357M

c.1069G>A

1 paper

NM_002470.4

p.M358V

c.1072A>G

1 paper

NM_002470.4

p.G361R

c.1081G>C

1 paper

NM_002470.4

p.G361R

c.1081G>A

1 paper

NM_002470.4

p.F342V

c.1024T>G

1 paper

NM_002470.4

p.G341S

c.1021G>A

2 papers

NM_002470.4

p.L340Q

c.1019T>A