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.Y1042*

c.3126T>A

Surrounding Variants

9 papers

NM_017433.5

p.Y1042*

c.3126T>G

1 paper

NM_017433.5

p.Y1043delFs

c.3127delT

1 paper

NM_017433.5

p.Y1043fs

c.3127_3128fs

1 paper

NM_017433.5

p.Y1043_H1044insFs

c.3129_3130insT

3 papers

NM_017433.5

p.Y1043*

c.3129T>A

3 papers

NM_017433.5

p.Y1043*

c.3129T>G

2 papers

NM_017433.5

p.V1045M

c.3133G>A

1 paper

NM_017433.5

p.V1045L

c.3133G>C

1 paper

NM_017433.5

p.V1045L

c.3133G>T

1 paper

NM_017433.5

p.K1037_V1038Splc

c.3112-4T>C

1 paper

NM_017433.5

p.R1052Q

c.3155G>A

2 papers

NM_017433.5

p.A1064T

c.3190G>A