Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.M1insFs

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.M1insFs
c.1_2dupAT
Surrounding Variants
7 papers
NM_017950.4
p.M1insFs
c.2dupT
1 paper
NM_017950.4
p.M1delFs
c.2delT
1 paper
NM_017950.4
p.M1T
c.2T>C
3 papers
NM_017950.4
p.M1R
c.2T>G
1 paper
NM_017950.4
p.M1insFs
c.3dupG
2 papers
NM_017950.4
p.A2_E3insT
c.4_8ins3
1 paper
NM_017950.4
p.P4L
c.11C>T
2 papers
NM_017950.4
p.G6_A7delFs
c.17_20del4
1 paper
NM_017950.4
p.R10Splc
c.30-80G>A
2 papers
NM_017950.4
p.R10Splc
c.30-6A>G
1 paper
NM_017950.4
p.S11insFs
c.31_32ins13
1 paper
NM_017950.4
p.S11delFs
c.33delC
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