Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.W1923R

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.W1923R
c.5767T>A
Surrounding Variants
2 papers
NM_001200049.3
p.W1923R
c.5767T>C
1 paper
NM_001200049.3
p.R1928Q
c.5783G>A
1 paper
NM_001200049.3
p.Q1942L
c.5825A>T
3 papers
NM_001200049.3
p.R1952C
c.5854C>T
1 paper
NM_001200049.3
p.R1954Q
c.5861G>A
1 paper
NM_001200049.3
p.L1958M
c.5872C>A
1 paper
NM_001200049.3
p.G1960R
c.5878G>C
1 paper
NM_001200049.3
p.G1960R
c.5878G>A
1 paper
NM_001200049.3
p.A1962fs
c.5884_5885fs
1 paper
NM_001200049.3
p.A1962_L1963delFs
c.5884_5887del4
1 paper
NM_001200049.3
p.H1964fs
c.5890_5891fs
1 paper
NM_001200049.3
p.H1964insFs
c.5891_5892ins4
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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."