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

2 papers

NM_017433.5

p.K390_H391Splc

c.1170+7C>T

Surrounding Variants

1 paper

NM_017433.5

p.P380P

c.1140T>C

1 paper

NM_017433.5

p.P380H

c.1139C>A

1 paper

NM_017433.5

p.A377S

c.1129G>T

1 paper

NM_017433.5

p.I376T

c.1127T>C

1 paper

NM_017433.5

p.D373N

c.1117G>A

1 paper

NM_017433.5

p.D373Y

c.1117G>T

10 papers

NM_017433.5

p.V369I

c.1105G>A

3 papers

NM_017433.5

p.Y368Y

c.1104C>T

2 papers

NM_017433.5

p.Y368_V369delins

c.1104_1105delinsTA

1 paper

NM_017433.5

p.Q366E

c.1096C>G

1 paper

NM_017433.5

p.E359V

c.1076A>T

1 paper

NM_017433.5

p.S355*

c.1064C>A