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

15 papers

NM_017433.5

p.L697W

c.2090T>G

Surrounding Variants

1 paper

NM_017433.5

p.N695N

c.2085C>T

1 paper

NM_017433.5

p.S702A

c.2104T>G

1 paper

NM_017433.5

p.R685H

c.2054G>A

1 paper

NM_017433.5

p.G684G

c.2052A>G

1 paper

NM_017433.5

p.A679T

c.2035G>A

1 paper

NM_017433.5

p.E669K

c.2005G>A

1 paper

NM_017433.5

p.V668V

c.2004A>T

1 paper

NM_017433.5

p.N666I

c.1997A>T

1 paper

NM_017433.5

p.R664*

c.1990C>T

1 paper

NM_017433.5

p.A649S

c.1945G>T

1 paper

NM_017433.5

p.E645D

c.1935G>T

1 paper

NM_017433.5

p.R642W

c.1924C>T