Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.P171L

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.P171L
c.512C>T
Surrounding Variants
1 paper
NM_033395.2
p.T165A
c.493A>G
1 paper
NM_033395.2
p.I164S
c.491T>G
1 paper
NM_033395.2
p.E176_N177Splc
c.528+6T>C
1 paper
NM_033395.2
p.K163I
c.488A>T
1 paper
NM_033395.2
p.K163_I164del2
c.487_491del6
2 papers
NM_033395.2
p.T144T
c.432C>A
1 paper
NM_033395.2
p.K118N
c.354A>T
1 paper
NM_033395.2
p.Q112P
c.335A>C
1 paper
NM_033395.2
p.A111E
c.332C>A
1 paper
NM_033395.2
p.Y86C
c.257A>G
1 paper
NM_033395.2
p.L82S
c.245T>C
1 paper
NM_033395.2
p.E70K
c.208G>A
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