Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.E904Splc

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
11 papers
NM_017950.4
p.E904Splc
c.2712-1G>T
Surrounding Variants
5 papers
NM_017950.4
p.E904Splc
c.2712-1G>A
2 papers
NM_017950.4
p.Q906*
c.2716C>T
1 paper
NM_017950.4
p.L909F
c.2725C>T
3 papers
NM_017950.4
p.I914insFs
c.2740dupA
1 paper
NM_017950.4
p.Q915*
c.2743C>T
1 paper
NM_017950.4
p.Q930*
c.2788C>T
1 paper
NM_017950.4
p.T931M
c.2792C>T
2 papers
NM_017950.4
p.R934W
c.2800C>T
8 papers
NM_017950.4
p.R942insFs
c.2824_2825ins4
6 papers
NM_017950.4
p.R942ins1
c.2824_2825insTGT
4 papers
NM_017950.4
p.R942fs
c.2824_2825fs
1 paper
NM_017950.4
p.R942insFs
c.2825_2826ins4
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