Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.R1883Q

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.R1883Q
c.5648G>A
Surrounding Variants
1 paper
NM_033395.2
p.P1896S
c.5686C>T
3 papers
NM_033395.2
p.P1896L
c.5687C>T
1 paper
NM_033395.2
p.G1866fs
c.5596_5597fs
1 paper
NM_033395.2
p.G1866delFs
c.5597delG
1 paper
NM_033395.2
p.S1760_K1761delins
c.5280_5281delinsTA
1 paper
NM_033395.2
p.L1732P
c.5195T>C
1 paper
NM_033395.2
p.K1730Q
c.5188A>C
1 paper
NM_033395.2
p.L1695F
c.5085G>C
1 paper
NM_033395.2
p.L1695F
c.5085G>T
1 paper
NM_033395.2
p.P1682T
c.5044C>A
1 paper
NM_033395.2
p.A1680T
c.5038G>A
1 paper
NM_033395.2
p.K1664K
c.4992A>G
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