Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.L176P

CCDC39

215 papers

RefSeq Summary

The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulat...

Pfam Domains

CCDC39aa 16–849UCSCCoiled-coil domain-containing protein 39

Gene Aliases

HGNC Name

coiled-coil domain 39 molecular ruler complex subunit

HGNC Alias Symbols

DKFZp434A128; CILD14; FAP59; CFAP59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181426.2
p.L176P
c.527T>C
Surrounding Variants
1 paper
NM_181426.2
p.L176fs
c.526_527fs
8 papers
NM_181426.2
p.L176delFs
c.526_527delAG
5 papers
NM_181426.2
p.L176fs
c.526_527fs
1 paper
NM_181426.2
p.T175A
c.523A>G
1 paper
NM_181426.2
p.L181fs
c.541_542fs
2 papers
NM_181426.2
p.T182S
c.544A>T
2 papers
NM_181426.2
p.T182S
c.545C>G
1 paper
NM_181426.2
p.L183fs
c.547_548fs
1 paper
NM_181426.2
p.L183*
c.548T>A
3 papers
NM_181426.2
p.L183delFs
c.547_548delAA
1 paper
NM_181426.2
p.K190_I191insFs
c.570_571dupGA
1 paper
NM_181426.2
p.L181_I191delFs
c.541_571del31
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