Varaico: Literature-Extracted Genetic Variants

MYO3A

296 papers

RefSeq Summary

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (clas...

Pfam Domains

Pkinaseaa 21–287UCSCProtein kinase domain

Myosin_headaa 340–1041UCSCMyosin head (motor domain)

IQaa 1083–1101UCSCIQ calmodulin-binding motif

IQaa 1347–1367UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin IIIA

HGNC Previous Symbol

DFNB30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017433.5

p.K41*

c.121A>T

Surrounding Variants

1 paper

NM_017433.5

p.K41delFs

c.122delA

1 paper

NM_017433.5

p.N43fs

c.127_128fs

1 paper

NM_017433.5

p.V38V

c.114A>G

1 paper

NM_017433.5

p.V38A

c.113T>C

2 papers

NM_017433.5

p.G44D

c.131G>A

1 paper

NM_017433.5

p.Q45fs

c.133_134fs

1 paper

NM_017433.5

p.Q45delFs

c.134delA

1 paper

NM_017433.5

p.K46_A48del0

c.138_143del6

1 paper

NM_017433.5

p.K46N

c.138A>C

1 paper

NM_017433.5

p.K46N

c.138A>T

1 paper

NM_017433.5

p.A47E

c.140C>A

1 paper

NM_017433.5

p.A47G

c.140C>G