Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.E2429Splc

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
3 papers
NM_001200049.3
p.E2429Splc
c.7286-2A>G
Surrounding Variants
1 paper
NM_001200049.3
p.Q2426Q
c.7278G>A
1 paper
NM_001200049.3
p.I2409M
c.7227A>G
1 paper
NM_001200049.3
p.I2403I
c.7209C>T
1 paper
NM_001200049.3
p.V2376M
c.7126G>A
1 paper
NM_001200049.3
p.A2496T
c.7486G>A
1 paper
NM_001200049.3
p.L2499F
c.7497G>T
1 paper
NM_001200049.3
p.L2499F
c.7497G>C
1 paper
NM_001200049.3
p.E2501Splc
c.7502-4G>A
2 papers
NM_001200049.3
p.R2512W
c.7534C>T
3 papers
NM_001200049.3
p.R2550*
c.7648C>T
1 paper
NM_001200049.3
p.L2561F
c.7681C>T
1 paper
NM_001200049.3
p.L2571L
c.7713C>G
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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."