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.G414G

c.1242A>T

Surrounding Variants

1 paper

NM_017433.5

p.G414V

c.1241G>T

2 papers

NM_017433.5

p.I419T

c.1256T>C

1 paper

NM_017433.5

p.T420I

c.1259C>T

1 paper

NM_017433.5

p.D424V

c.1271A>T

1 paper

NM_017433.5

p.K399delFs

c.1197delG

2 papers

NM_017433.5

p.S398*

c.1193C>A

2 papers

NM_017433.5

p.S398*

c.1193C>G

1 paper

NM_017433.5

p.L394I

c.1180C>A

1 paper

NM_017433.5

p.S392P

c.1174T>C

1 paper

NM_017433.5

p.C426S

c.1276T>A

1 paper

NM_017433.5

p.C426G

c.1276T>G

1 paper

NM_017433.5

p.C426S

c.1277G>C