Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.E426*

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.E426*
c.1276G>T
Surrounding Variants
1 paper
NM_017950.4
p.E426G
c.1277A>G
1 paper
NM_017950.4
p.R429S
c.1287G>C
1 paper
NM_017950.4
p.R429S
c.1287G>T
1 paper
NM_017950.4
p.V422_K423del1
c.1265_1267delTAA
1 paper
NM_017950.4
p.Q420fs
c.1258_1259fs
1 paper
NM_017950.4
p.Q420*
c.1258C>T
5 papers
NM_017950.4
p.Q420delFs
c.1259delA
1 paper
NM_017950.4
p.E435K
c.1303G>A
1 paper
NM_017950.4
p.D414N
c.1240G>A
7 papers
NM_017950.4
p.Q439*
c.1315C>T
1 paper
NM_017950.4
p.Q439H
c.1317G>C
1 paper
NM_017950.4
p.R412delFs
c.1235delG
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