Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.I473fs

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.I473fs
c.1417_1418fs
Surrounding Variants
2 papers
NM_017950.4
p.R472fs
c.1414_1415fs
13 papers
NM_017950.4
p.R472delFs
c.1416delG
1 paper
NM_017950.4
p.R472fs
c.1414_1415fs
3 papers
NM_017950.4
p.R472delFs
c.1414delC
1 paper
NM_017950.4
p.E455V
c.1364A>T
10 papers
NM_017950.4
p.R449*
c.1345C>T
1 paper
NM_017950.4
p.T447T
c.1341C>A
1 paper
NM_017950.4
p.Q445*
c.1333C>T
1 paper
NM_017950.4
p.Q439H
c.1317G>C
7 papers
NM_017950.4
p.Q439*
c.1315C>T
1 paper
NM_017950.4
p.E435K
c.1303G>A
1 paper
NM_017950.4
p.R429S
c.1287G>C
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