Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.G2531D

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.G2531D
c.7592G>A
Surrounding Variants
1 paper
NM_033395.2
p.K2534N
c.7602A>C
1 paper
NM_033395.2
p.K2534N
c.7602A>T
1 paper
NM_033395.2
p.Q2547Fs
c.7640delinsCAFs
1 paper
NM_033395.2
p.Q2547insFs
c.7640dupA
1 paper
NM_033395.2
p.Q2547fs
c.7639_7640fs
1 paper
NM_033395.2
p.A2548fs
c.7642_7643fs
1 paper
NM_033395.2
p.R2553delFs
c.7658delG
1 paper
NM_033395.2
p.L2555R
c.7664T>G
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
1 paper
NM_033395.2
p.V2507I
c.7519G>A
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