Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.L1037V

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.L1037V
c.3109C>G
Surrounding Variants
4 papers
NM_017950.4
p.K1033*
c.3097A>T
1 paper
NM_017950.4
p.E1032K
c.3094G>A
9 papers
NM_017950.4
p.D1043delFs
c.3129delC
1 paper
NM_017950.4
p.L1030P
c.3089T>C
1 paper
NM_017950.4
p.F1044fs
c.3130_3131fs
3 papers
NM_017950.4
p.F1044fs
c.3130_3131fs
1 paper
NM_017950.4
p.R1024G
c.3070A>G
2 papers
NM_017950.4
p.D1050N
c.3148G>A
1 paper
NM_017950.4
p.L1054R
c.3161T>G
1 paper
NM_017950.4
p.V1016I
c.3046G>A
1 paper
NM_017950.4
p.K1058T
c.3173A>C
2 papers
NM_017950.4
p.T1015delFs
c.3044_3045delCC
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