Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.Q362*

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.Q362*
c.1084C>T
Surrounding Variants
3 papers
NM_001200049.3
p.T386M
c.1157C>T
1 paper
NM_001200049.3
p.R400W
c.1198C>T
1 paper
NM_001200049.3
p.V413M
c.1237G>A
1 paper
NM_001200049.3
p.E355K
c.1063G>A
1 paper
NM_001200049.3
p.V348M
c.1042G>A
1 paper
NM_001200049.3
p.I328V
c.982A>G
1 paper
NM_001200049.3
p.L327R
c.980T>G
3 papers
NM_001200049.3
p.T422M
c.1265C>T
2 papers
NM_001200049.3
p.A433V
c.1298C>T
1 paper
NM_001200049.3
p.E439K
c.1315G>A
1 paper
NM_001200049.3
p.P444S
c.1330C>T
1 paper
NM_001200049.3
p.A452A
c.1356C>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."