Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.L372_Y373delFs

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
2 papers
NM_017950.4
p.L372_Y373delFs
c.1116_1117delCT
Surrounding Variants
1 paper
NM_017950.4
p.R370H
c.1109G>A
1 paper
NM_017950.4
p.Y373C
c.1118A>G
1 paper
NM_017950.4
p.Y373delFs
c.1119delC
1 paper
NM_017950.4
p.T374I
c.1121C>T
1 paper
NM_017950.4
p.L366delFs
c.1097delT
1 paper
NM_017950.4
p.E365delFs
c.1095delG
1 paper
NM_017950.4
p.A378_A379del2
c.1132_1136del6
1 paper
NM_017950.4
p.A378T
c.1132G>A
1 paper
NM_017950.4
p.E364Q
c.1090G>C
1 paper
NM_017950.4
p.K362R
c.1085A>G
3 papers
NM_017950.4
p.E382K
c.1144G>A
1 paper
NM_017950.4
p.R359H
c.1076G>A
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