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.V466L

c.1396G>C

Surrounding Variants

1 paper

NM_017433.5

p.V466M

c.1396G>A

1 paper

NM_017433.5

p.V466L

c.1396G>T

1 paper

NM_017433.5

p.K462N

c.1386G>C

1 paper

NM_017433.5

p.K462N

c.1386G>T

1 paper

NM_017433.5

p.L469F

c.1407G>C

1 paper

NM_017433.5

p.L469F

c.1407G>T

1 paper

NM_017433.5

p.E461*

c.1381G>T

1 paper

NM_017433.5

p.E471*

c.1411G>T

1 paper

NM_017433.5

p.E471G

c.1412A>G

1 paper

NM_017433.5

p.A472G

c.1415C>G

3 papers

NM_017433.5

p.R457fs

c.1369_1370fs

3 papers

NM_017433.5

p.R457delFs

c.1370_1371delGA