Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.T864delins

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.T864delins
c.2591_2592delinsGA
Surrounding Variants
1 paper
NM_033395.2
p.E866delFs
c.2596delG
4 papers
NM_033395.2
p.Q868delFs
c.2603delA
4 papers
NM_033395.2
p.Q868fs
c.2602_2603fs
2 papers
NM_033395.2
p.L871S
c.2612T>C
1 paper
NM_033395.2
p.N846I
c.2537A>T
1 paper
NM_033395.2
p.Q843*
c.2527C>T
1 paper
NM_033395.2
p.S886L
c.2657C>T
1 paper
NM_033395.2
p.V887I
c.2659G>A
1 paper
NM_033395.2
p.D831H
c.2491G>C
1 paper
NM_033395.2
p.A898T
c.2692G>A
1 paper
NM_033395.2
p.T821K
c.2462C>A
1 paper
NM_033395.2
p.S812L
c.2435C>T
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