Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.E346_M354del9

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.E346_M354del9
c.1036_1061del27
Surrounding Variants
1 paper
NM_017950.4
p.K343insFs
c.1028dupA
1 paper
NM_017950.4
p.Q342R
c.1025A>G
1 paper
NM_017950.4
p.H349L
c.1046A>T
1 paper
NM_017950.4
p.R351H
c.1052G>A
5 papers
NM_017950.4
p.Q336*
c.1006C>T
1 paper
NM_017950.4
p.Q335*
c.1003C>T
1 paper
NM_017950.4
p.A355V
c.1064C>T
1 paper
NM_017950.4
p.Q335_Q336del2
c.1003_1007del6
1 paper
NM_017950.4
p.S357insFs
c.1069_1070insAC
1 paper
NM_017950.4
p.Y332C
c.995A>G
2 papers
NM_017950.4
p.E358delFs
c.1072delG
1 paper
NM_017950.4
p.Y332fs
c.994_995fs
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