Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.V928L

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.V928L
c.2782G>C
Surrounding Variants
1 paper
NM_033395.2
p.V928L
c.2782G>T
2 papers
NM_033395.2
p.R936H
c.2807G>A
1 paper
NM_033395.2
p.S945_Q946insC
c.2833_2837ins3
1 paper
NM_033395.2
p.F952_L953insA
c.2854_2858ins3
1 paper
NM_033395.2
p.A898T
c.2692G>A
1 paper
NM_033395.2
p.V887I
c.2659G>A
1 paper
NM_033395.2
p.S886L
c.2657C>T
1 paper
NM_033395.2
p.H977_K978insC
c.2929_2933ins3
1 paper
NM_033395.2
p.R984K
c.2951G>A
2 papers
NM_033395.2
p.L871S
c.2612T>C
4 papers
NM_033395.2
p.Q868delFs
c.2603delA
4 papers
NM_033395.2
p.Q868fs
c.2602_2603fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."