Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.V1492L

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.V1492L
c.4474G>C
Surrounding Variants
1 paper
NM_033395.2
p.V1492L
c.4474G>T
1 paper
NM_033395.2
p.Q1510R
c.4529A>G
1 paper
NM_033395.2
p.R1520*
c.4558C>T
1 paper
NM_033395.2
p.I1522L
c.4564A>C
1 paper
NM_033395.2
p.I1522L
c.4564A>T
1 paper
NM_033395.2
p.E1461A
c.4382A>C
1 paper
NM_033395.2
p.L1456F
c.4368G>C
1 paper
NM_033395.2
p.L1456F
c.4368G>T
1 paper
NM_033395.2
p.S1543F
c.4628C>T
1 paper
NM_033395.2
p.T1437R
c.4310C>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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