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.R931_Y932Splc

c.2794-3T>C

Surrounding Variants

1 paper

NM_017433.5

p.R931_Y932Splc

c.2794-11G>A

1 paper

NM_017433.5

p.V949V

c.2847C>T

2 papers

NM_017433.5

p.R950H

c.2849G>A

1 paper

NM_017433.5

p.C951S

c.2851T>A

1 paper

NM_017433.5

p.C951S

c.2852G>C

8 papers

NM_017433.5

p.S956N

c.2867G>A

1 paper

NM_017433.5

p.V968I

c.2902G>A

2 papers

NM_017433.5

p.R973Q

c.2918G>A

2 papers

NM_017433.5

p.R984Q

c.2951G>A

1 paper

NM_017433.5

p.R991W

c.2971C>T

1 paper

NM_017433.5

p.R991Q

c.2972G>A

1 paper

NM_017433.5

p.I992T

c.2975T>C