Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.S11insFs

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.S11insFs
c.31_32ins13
Surrounding Variants
1 paper
NM_017950.4
p.S11delFs
c.33delC
2 papers
NM_017950.4
p.R10Splc
c.30-6A>G
1 paper
NM_017950.4
p.P13L
c.38C>T
2 papers
NM_017950.4
p.G16G
c.48A>G
2 papers
NM_017950.4
p.S17_E20del4
c.49_59del12
1 paper
NM_017950.4
p.S17fs
c.49_50fs
1 paper
NM_017950.4
p.S19F
c.56C>T
4 papers
NM_017950.4
p.G21V
c.62G>T
1 paper
NM_017950.4
p.N27delFs
c.81delT
1 paper
NM_017950.4
p.M31_V32ins13
c.91_95ins39
1 paper
NM_017950.4
p.M31_V32Splc
c.93+1G>A
1 paper
NM_017950.4
p.R10Splc
c.30-80G>A
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