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

1–12 of 487 variants

15 papers

NM_017433.5

p.L697W

c.2090T>G

12 papers

NM_017433.5

p.G488E

c.1463G>A

10 papers

NM_017433.5

p.V369I

c.1105G>A

9 papers

NM_017433.5

p.K50R

c.149A>G

9 papers

NM_017433.5

p.Y1042*

c.3126T>G

8 papers

NM_017433.5

p.S956N

c.2867G>A

7 papers

NM_017433.5

p.H142Q

c.426T>A

7 papers

NM_017433.5

p.H142Q

c.426T>G

7 papers

NM_017433.5

p.H442N

c.1324C>A

6 papers

NM_017433.5

p.P194T

c.580C>A

6 papers

NM_017433.5

p.I348V

c.1042A>G

6 papers

NM_017433.5

p.E592_Q593Splc

c.1777-12G>A