Varaico: Literature-Extracted Genetic Variants

Gene:CEP295

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
1–12 of 199 variants
4 papers
NM_033395.2
p.Q868delFs
c.2603delA
4 papers
NM_033395.2
p.Q868fs
c.2602_2603fs
4 papers
NM_033395.2
p.E2437V
c.7310A>T
4 papers
NM_033395.2
p.L2557*
c.7670T>A
4 papers
NM_033395.2
p.L2557*
c.7670T>G
4 papers
NM_033395.2
p.Y2558D
c.7672T>G
3 papers
NM_033395.2
p.P1896L
c.5687C>T
2 papers
NM_033395.2
p.T144T
c.432C>A
2 papers
NM_033395.2
p.T451R
c.1352C>G
2 papers
NM_033395.2
p.Q602E
c.1804C>G
2 papers
NM_033395.2
p.L871S
c.2612T>C
2 papers
NM_033395.2
p.R936H
c.2807G>A
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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."