Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.Y312C

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.Y312C
c.935A>G
Surrounding Variants
1 paper
NM_033395.2
p.N313H
c.937A>C
1 paper
NM_033395.2
p.D315_R316insFs
c.945_946insC
1 paper
NM_033395.2
p.V287V
c.861T>C
1 paper
NM_033395.2
p.L272P
c.815T>C
1 paper
NM_033395.2
p.V318insFs
c.952_953insA
1 paper
NM_033395.2
p.L326fs
c.976_977fs
1 paper
NM_033395.2
p.L326insFs
c.977_978insC
1 paper
NM_033395.2
p.P332L
c.995C>T
1 paper
NM_033395.2
p.I338insFs
c.1012_1013insT
1 paper
NM_033395.2
p.I338F
c.1012A>T
1 paper
NM_033395.2
p.Q339_D340delFs
c.1017_1018delAG
1 paper
NM_033395.2
p.E341insFs
c.1022_1023insT
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