Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.S264N

CFAP46

156 papers

Pfam Domains

TPR_CFAP46_Naa 1–150UCSCCFAP46, N-terminal TPR repeats

Gene Aliases

HGNC Name

cilia and flagella associated protein 46

HGNC Previous Symbols

C10orf123; C10orf124; C10orf93; C10orf92; TTC40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001200049.3
p.S264N
c.791G>A
Surrounding Variants
1 paper
NM_001200049.3
p.K269R
c.806A>G
1 paper
NM_001200049.3
p.A252T
c.754G>A
1 paper
NM_001200049.3
p.R281C
c.841C>T
1 paper
NM_001200049.3
p.E228*
c.682G>T
1 paper
NM_001200049.3
p.M220V
c.658A>G
1 paper
NM_001200049.3
p.L179L
c.535C>T
1 paper
NM_001200049.3
p.W173R
c.517T>C
1 paper
NM_001200049.3
p.W173R
c.517T>A
1 paper
NM_001200049.3
p.V162L
c.484G>T
1 paper
NM_001200049.3
p.R149H
c.446G>A
1 paper
NM_001200049.3
p.R124Splc
c.372-9G>A
1 paper
NM_001200049.3
p.R298H
c.893G>A
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