Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.V784L

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.V784L
c.2350G>C
Surrounding Variants
1 paper
NM_001200049.3
p.V784L
c.2350G>T
1 paper
NM_001200049.3
p.E827V
c.2480A>T
1 paper
NM_001200049.3
p.A831V
c.2492C>T
1 paper
NM_001200049.3
p.A831A
c.2493G>A
1 paper
NM_001200049.3
p.A763S
c.2287G>T
1 paper
NM_001200049.3
p.V761V
c.2283G>T
1 paper
NM_001200049.3
p.G755R
c.2263G>C
1 paper
NM_001200049.3
p.G755R
c.2263G>A
1 paper
NM_001200049.3
p.A754A
c.2262C>G
1 paper
NM_001200049.3
p.G728V
c.2183G>T
1 paper
NM_001200049.3
p.R715W
c.2143C>T
1 paper
NM_001200049.3
p.E833_V834Splc
c.2500-17G>T
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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."