Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.R2550*

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.R2550*
c.7648C>T
Surrounding Variants
2 papers
NM_001200049.3
p.R2512W
c.7534C>T
1 paper
NM_001200049.3
p.E2501Splc
c.7502-4G>A
1 paper
NM_001200049.3
p.L2561F
c.7681C>T
1 paper
NM_001200049.3
p.L2571L
c.7713C>G
1 paper
NM_001200049.3
p.H2576Y
c.7726C>T
1 paper
NM_001200049.3
p.P2582P
c.7746T>A
1 paper
NM_001200049.3
p.P2624L
c.7871C>T
1 paper
NM_001200049.3
p.A2654V
c.7961C>T
3 papers
NM_001200049.3
p.R2657C
c.7969C>T
1 paper
NM_001200049.3
p.A2660P
c.7978G>C
1 paper
NM_001200049.3
p.A2671A
c.8013G>A
1 paper
NM_001200049.3
p.R2677P
c.8030G>C
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