Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.D309N

CCDC40

254 papers

RefSeq Summary

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory ...

Gene Aliases

HGNC Name

coiled-coil domain 40 molecular ruler complex subunit

HGNC Alias Symbols

FLJ20753; KIAA1640; FLJ32021; CILD15; FAP172; CFAP172

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017950.4
p.D309N
c.925G>A
Surrounding Variants
1 paper
NM_017950.4
p.Q302*
c.904C>T
9 papers
NM_017950.4
p.R301*
c.901C>T
2 papers
NM_017950.4
p.Y298*
c.894C>A
1 paper
NM_017950.4
p.Y298*
c.894C>G
1 paper
NM_017950.4
p.L299delFs
c.895delC
1 paper
NM_017950.4
p.F291F
c.873C>T
1 paper
NM_017950.4
p.L287delFs
c.859delC
6 papers
NM_017950.4
p.L313_V314Splc
c.940-2A>G
5 papers
NM_017950.4
p.L313_V314Splc
c.940-1G>C
1 paper
NM_017950.4
p.A316_S320delFs
c.948_958del11
1 paper
NM_017950.4
p.Q319*
c.955C>T
4 papers
NM_017950.4
p.S320S
c.960C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."