Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.E765K

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.E765K
c.2293G>A
Surrounding Variants
1 paper
NM_017950.4
p.L762_I763delFs
c.2286_2287delGA
2 papers
NM_017950.4
p.V775M
c.2323G>A
1 paper
NM_017950.4
p.E755K
c.2263G>A
1 paper
NM_017950.4
p.E755Q
c.2263G>C
1 paper
NM_017950.4
p.L752P
c.2255T>C
1 paper
NM_017950.4
p.P751P
c.2253C>A
1 paper
NM_017950.4
p.L778P
c.2333T>C
1 paper
NM_017950.4
p.P751R
c.2252C>G
3 papers
NM_017950.4
p.P751T
c.2251C>A
1 paper
NM_017950.4
p.R779H
c.2336G>A
1 paper
NM_017950.4
p.G750delFs
c.2250delG
1 paper
NM_017950.4
p.V749L
c.2245G>T
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