Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.S467L

CEP295

133 papers

Pfam Domains

CEP295NLaa 1–610UCSCCEP295 N-terminal-like protein
ALMS_motifaa 2474–2599UCSCALMS motif

Gene Aliases

HGNC Name

centrosomal protein 295

HGNC Previous Symbol

KIAA1731

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033395.2
p.S467L
c.1400C>T
Surrounding Variants
2 papers
NM_033395.2
p.T451R
c.1352C>G
1 paper
NM_033395.2
p.A488T
c.1462G>A
1 paper
NM_033395.2
p.A499E
c.1496C>A
1 paper
NM_033395.2
p.I529T
c.1586T>C
1 paper
NM_033395.2
p.Q544*
c.1630C>T
1 paper
NM_033395.2
p.R550K
c.1649G>A
1 paper
NM_033395.2
p.T553fs
c.1657_1658fs
1 paper
NM_033395.2
p.T426M
c.1277C>T
1 paper
NM_033395.2
p.F387delFs
c.1160delT
1 paper
NM_033395.2
p.G559V
c.1676G>T
1 paper
NM_033395.2
p.P562L
c.1685C>T
1 paper
NM_033395.2
p.E571A
c.1712A>C
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