Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.R814*

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
13 papers
NM_017950.4
p.R814*
c.2440C>T
Surrounding Variants
1 paper
NM_017950.4
p.S817Splc
c.2449+1G>A
1 paper
NM_017950.4
p.E809delFs
c.2426_2427delAG
1 paper
NM_017950.4
p.K803R
c.2408A>G
1 paper
NM_017950.4
p.K803fs
c.2407_2408fs
1 paper
NM_017950.4
p.K803delFs
c.2408delA
1 paper
NM_017950.4
p.A796G
c.2387C>G
1 paper
NM_017950.4
p.E793K
c.2377G>A
1 paper
NM_017950.4
p.T788K
c.2363C>A
1 paper
NM_017950.4
p.S817Splc
c.2449+94G>A
1 paper
NM_017950.4
p.R779H
c.2336G>A
1 paper
NM_017950.4
p.L778P
c.2333T>C
2 papers
NM_017950.4
p.V775M
c.2323G>A
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