Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.Q712P

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.Q712P
c.2135A>C
Surrounding Variants
1 paper
NM_033395.2
p.R694H
c.2081G>A
1 paper
NM_033395.2
p.Q686*
c.2056C>T
1 paper
NM_033395.2
p.E670G
c.2009A>G
1 paper
NM_033395.2
p.S762I
c.2285G>T
1 paper
NM_033395.2
p.P660H
c.1979C>A
1 paper
NM_033395.2
p.L651_K652del2
c.1951_1955del6
1 paper
NM_033395.2
p.P783A
c.2347C>G
1 paper
NM_033395.2
p.Q808E
c.2422C>G
1 paper
NM_033395.2
p.S812L
c.2435C>T
1 paper
NM_033395.2
p.T821K
c.2462C>A
2 papers
NM_033395.2
p.Q602E
c.1804C>G
1 paper
NM_033395.2
p.D831H
c.2491G>C
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