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

4 papers

NM_017433.5

p.A520V

c.1559C>T

Surrounding Variants

1 paper

NM_017433.5

p.I517I

c.1551C>A

1 paper

NM_017433.5

p.S514T

c.1540T>A

1 paper

NM_017433.5

p.Y509H

c.1525T>C

1 paper

NM_017433.5

p.G503E

c.1508G>A

1 paper

NM_017433.5

p.K489fs

c.1465_1466fs

12 papers

NM_017433.5

p.G488E

c.1463G>A

1 paper

NM_017433.5

p.G488delFs

c.1464delA

1 paper

NM_017433.5

p.G488*

c.1462G>T

1 paper

NM_017433.5

p.F487L

c.1461T>A

1 paper

NM_017433.5

p.F487L

c.1461T>G

1 paper

NM_017433.5

p.F487L

c.1459T>C

2 papers

NM_017433.5

p.S484P

c.1450T>C