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.I348V

c.1042A>G

Surrounding Variants

1 paper

NM_017433.5

p.I348delFs

c.1042delA

1 paper

NM_017433.5

p.A344A

c.1032A>T

1 paper

NM_017433.5

p.E351D

c.1053G>C

1 paper

NM_017433.5

p.E351D

c.1053G>T

1 paper

NM_017433.5

p.E351_N352Splc

c.1053+2T>A

1 paper

NM_017433.5

p.D339Y

c.1015G>T

1 paper

NM_017433.5

p.S335S

c.1005C>A

1 paper

NM_017433.5

p.L333L

c.997C>T

1 paper

NM_017433.5

p.P332A

c.994C>G

1 paper

NM_017433.5

p.P332S

c.994C>T

1 paper

NM_017433.5

p.R331Q

c.992G>A

3 papers

NM_017433.5

p.R331*

c.991C>T