Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.K498delFs

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.K498delFs
c.1494delT
Surrounding Variants
1 paper
NM_001200049.3
p.K508R
c.1523A>G
1 paper
NM_001200049.3
p.R509Q
c.1526G>A
1 paper
NM_001200049.3
p.P521L
c.1562C>T
1 paper
NM_001200049.3
p.D529Y
c.1585G>T
1 paper
NM_001200049.3
p.V493F
c.1477G>T
1 paper
NM_001200049.3
p.V493I
c.1477G>A
1 paper
NM_001200049.3
p.D487N
c.1459G>A
3 papers
NM_001200049.3
p.R484S
c.1450C>A
1 paper
NM_001200049.3
p.T477M
c.1430C>T
1 paper
NM_001200049.3
p.T470N
c.1409C>A
1 paper
NM_001200049.3
p.R462Q
c.1385G>A
1 paper
NM_001200049.3
p.A452A
c.1356C>T
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