Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.E126Q

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.E126Q
c.376G>C
Surrounding Variants
1 paper
NM_017950.4
p.E126_E127delFs
c.378_379delGG
1 paper
NM_017950.4
p.A128insFs
c.383_384insG
1 paper
NM_017950.4
p.Y129*
c.387C>A
2 papers
NM_017950.4
p.Y129*
c.387C>G
1 paper
NM_017950.4
p.Q121*
c.361C>T
1 paper
NM_017950.4
p.P120L
c.359C>T
1 paper
NM_017950.4
p.Y116_S118del0
c.346_354del9
1 paper
NM_017950.4
p.P115fs
c.343_344fs
5 papers
NM_017950.4
p.P115delFs
c.344delC
1 paper
NM_017950.4
p.L138insFs
c.412dupC
2 papers
NM_017950.4
p.T112A
c.334A>G
1 paper
NM_017950.4
p.T112delFs
c.335_336delCG
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