Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.D2insFs

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
1 paper
NM_001200049.3
p.D2insFs
c.4dupG
Surrounding Variants
5 papers
NM_001200049.3
p.Q7*
c.19C>T
1 paper
NM_001200049.3
p.S20F
c.59C>T
1 paper
NM_001200049.3
p.A19_Y25del0
c.55_75del21
1 paper
NM_001200049.3
p.I28M
c.84C>G
1 paper
NM_001200049.3
p.K29N
c.87A>T
1 paper
NM_001200049.3
p.K29N
c.87A>C
1 paper
NM_001200049.3
p.Q61R
c.182A>G
1 paper
NM_001200049.3
p.P123L
c.368C>T
1 paper
NM_001200049.3
p.R124Splc
c.372-9G>A
1 paper
NM_001200049.3
p.R149H
c.446G>A
1 paper
NM_001200049.3
p.V162L
c.484G>T
1 paper
NM_001200049.3
p.W173R
c.517T>C
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