Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.E1581D

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.E1581D
c.4743G>T
Surrounding Variants
1 paper
NM_033395.2
p.E1581D
c.4743G>C
1 paper
NM_033395.2
p.R1580H
c.4739G>A
1 paper
NM_033395.2
p.S1577T
c.4729T>A
1 paper
NM_033395.2
p.S1591delFs
c.4773delT
1 paper
NM_033395.2
p.L1592fs
c.4774_4775fs
1 paper
NM_033395.2
p.S1571fs
c.4711_4712fs
1 paper
NM_033395.2
p.K1570delFs
c.4708delA
1 paper
NM_033395.2
p.K1594Q
c.4780A>C
1 paper
NM_033395.2
p.P1568R
c.4703C>G
1 paper
NM_033395.2
p.M1603T
c.4808T>C
1 paper
NM_033395.2
p.L1607V
c.4819T>G
1 paper
NM_033395.2
p.M1614I
c.4842G>A
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