Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.Y86C

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
3 papers
NM_017950.4
p.Y86C
c.257A>G
Surrounding Variants
1 paper
NM_017950.4
p.Y86_D88insFs
c.258_262dup5
1 paper
NM_017950.4
p.A89insFs
c.265_266insC
1 paper
NM_017950.4
p.A83V
c.248C>T
1 paper
NM_017950.4
p.A89V
c.266C>T
3 papers
NM_017950.4
p.A83fs
c.247_248fs
33 papers
NM_017950.4
p.A83delFs
c.248delC
14 papers
NM_017950.4
p.A83fs
c.247_248fs
1 paper
NM_017950.4
p.E82delFs
c.245delA
1 paper
NM_017950.4
p.S91_E92Fs
c.272_275delinsAGGFs
1 paper
NM_017950.4
p.E92*
c.274G>T
1 paper
NM_017950.4
p.A75_E80insFs
c.224_240dup17
3 papers
NM_017950.4
p.V69V
c.207G>C
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