Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.V348M

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.V348M
c.1042G>A
Surrounding Variants
1 paper
NM_001200049.3
p.E355K
c.1063G>A
1 paper
NM_001200049.3
p.I328V
c.982A>G
1 paper
NM_001200049.3
p.L327R
c.980T>G
1 paper
NM_001200049.3
p.Q362*
c.1084C>T
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.K318N
c.954G>T
1 paper
NM_001200049.3
p.K318N
c.954G>C
1 paper
NM_001200049.3
p.A311V
c.932C>T
1 paper
NM_001200049.3
p.M306T
c.917T>C
1 paper
NM_001200049.3
p.C305W
c.915C>G
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