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

6 papers

NM_017433.5

p.E592_Q593Splc

c.1777-12G>A

Surrounding Variants

1 paper

NM_017433.5

p.Q593fs

c.1777_1778fs

2 papers

NM_017433.5

p.L601R

c.1802T>G

1 paper

NM_017433.5

p.A602T

c.1804G>A

1 paper

NM_017433.5

p.A603E

c.1808C>A

1 paper

NM_017433.5

p.L605W

c.1814T>G

2 papers

NM_017433.5

p.V607F

c.1819G>T

1 paper

NM_017433.5

p.V607A

c.1820T>C

1 paper

NM_017433.5

p.I610V

c.1828A>G

5 papers

NM_017433.5

p.S614F

c.1841C>T

1 paper

NM_017433.5

p.T617_I621del5

c.1849_1862del15

1 paper

NM_017433.5

p.E633K

c.1897G>A

1 paper

NM_017433.5

p.R642W

c.1924C>T