Varaico: Literature-Extracted Genetic Variants

DNAAF3

84 papers

RefSeq Summary

The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are...

Pfam Domains

DUF4470aa 16–122UCSCDomain of unknown function (DUF4470)

DUF4471aa 154–443UCSCDomain of unknown function (DUF4471)

Gene Aliases

HGNC Name

dynein axonemal assembly factor 3

HGNC Previous Symbols

C19orf51; CILD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001256715.2

p.E292G

c.875A>G

Surrounding Variants

1 paper

NM_001256715.2

p.E288_T297del10

c.862_890del30

1 paper

NM_001256715.2

p.F282S

c.845T>C

1 paper

NM_001256715.2

p.P281L

c.842C>T

1 paper

NM_001256715.2

p.G280insFs

c.838dupG

1 paper

NM_001256715.2

p.G272_A278Fs

c.814_833delinsTGGGACCTGCGCATGAAGCTGFs

3 papers

NM_178837.4

p.A325T

c.973G>A

NM_001256715.2

p.A278T

c.832G>A

1 paper

NM_001256715.2

p.G275insFs

c.825dupG

1 paper

NM_001256715.2

p.R271_G272insFs

c.811_815dup5

1 paper

NM_001256715.2

p.Y263D

c.787T>G

2 papers

NM_001256715.2

p.N252S

c.755A>G

1 paper

NM_001256715.2

p.A239_L242delins

c.715_725delinsAA

1 paper

NM_001256715.2

p.V238I

c.712G>A