Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.V559M

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.V559M
c.1675G>A
Surrounding Variants
1 paper
NM_001200049.3
p.Y547insFs
c.1641dupC
1 paper
NM_001200049.3
p.L569insFs
c.1706dupT
1 paper
NM_001200049.3
p.R544Q
c.1631G>A
1 paper
NM_001200049.3
p.S537F
c.1610C>T
1 paper
NM_001200049.3
p.A582E
c.1745C>A
1 paper
NM_001200049.3
p.R589Q
c.1766G>A
1 paper
NM_001200049.3
p.V593M
c.1777G>A
1 paper
NM_001200049.3
p.R598W
c.1792C>T
1 paper
NM_001200049.3
p.R598Q
c.1793G>A
1 paper
NM_001200049.3
p.A600V
c.1799C>T
1 paper
NM_001200049.3
p.L605P
c.1814T>C
1 paper
NM_001200049.3
p.R619*
c.1855C>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."