Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.Q1146*

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.Q1146*
c.3436C>T
Surrounding Variants
1 paper
NM_033395.2
p.Q1160del1
c.3478_3479delCAA
1 paper
NM_033395.2
p.A1179T
c.3535G>A
1 paper
NM_033395.2
p.V1110delFs
c.3328delG
1 paper
NM_033395.2
p.T1189R
c.3566C>G
1 paper
NM_033395.2
p.L1096P
c.3287T>C
1 paper
NM_033395.2
p.E1200K
c.3598G>A
1 paper
NM_033395.2
p.H1075L
c.3224A>T
1 paper
NM_033395.2
p.I1221M
c.3663A>G
1 paper
NM_033395.2
p.H1054L
c.3161A>T
1 paper
NM_033395.2
p.L1053V
c.3157C>G
1 paper
NM_033395.2
p.Q1049*
c.3145C>T
1 paper
NM_033395.2
p.L1047I
c.3139C>A
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