Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.R351H

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.R351H
c.1052G>A
Surrounding Variants
1 paper
NM_017950.4
p.H349L
c.1046A>T
1 paper
NM_017950.4
p.A355V
c.1064C>T
1 paper
NM_017950.4
p.S357insFs
c.1069_1070insAC
2 papers
NM_017950.4
p.E358delFs
c.1072delG
1 paper
NM_017950.4
p.E346_M354del9
c.1036_1061del27
1 paper
NM_017950.4
p.R359H
c.1076G>A
1 paper
NM_017950.4
p.K343insFs
c.1028dupA
1 paper
NM_017950.4
p.Q342R
c.1025A>G
1 paper
NM_017950.4
p.K362R
c.1085A>G
1 paper
NM_017950.4
p.E364Q
c.1090G>C
1 paper
NM_017950.4
p.E365delFs
c.1095delG
1 paper
NM_017950.4
p.L366delFs
c.1097delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."