Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.L313_V314Splc

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
5 papers
NM_017950.4
p.L313_V314Splc
c.940-1G>C
Surrounding Variants
6 papers
NM_017950.4
p.L313_V314Splc
c.940-2A>G
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
11 papers
NM_017950.4
p.R321*
c.961C>T
1 paper
NM_017950.4
p.A322_V329delFs
c.966_987del22
1 paper
NM_017950.4
p.V329delFs
c.985delG
1 paper
NM_017950.4
p.L331delFs
c.991_992delCT
3 papers
NM_017950.4
p.Y332insFs
c.994_995insT
1 paper
NM_017950.4
p.Y332fs
c.994_995fs
1 paper
NM_017950.4
p.Y332C
c.995A>G
1 paper
NM_017950.4
p.Q335_Q336del2
c.1003_1007del6
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