Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.S1326G

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.S1326G
c.3976A>G
Surrounding Variants
1 paper
NM_033395.2
p.D1335D
c.4005T>C
1 paper
NM_033395.2
p.P1314R
c.3941C>G
2 papers
NM_033395.2
p.P1314T
c.3940C>A
1 paper
NM_033395.2
p.E1356E
c.4068A>G
1 paper
NM_033395.2
p.Q1285K
c.3853C>A
1 paper
NM_033395.2
p.S1388F
c.4163C>T
1 paper
NM_033395.2
p.A1262A
c.3786A>G
1 paper
NM_033395.2
p.Q1391L
c.4172A>T
1 paper
NM_033395.2
p.V1428I
c.4282G>A
1 paper
NM_033395.2
p.I1221M
c.3663A>G
1 paper
NM_033395.2
p.S1433*
c.4298C>A
1 paper
NM_033395.2
p.S1433*
c.4298C>G
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