Varaico: Literature-Extracted Genetic Variants

Gene:CEP295
Variant:p.H1054L

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.H1054L
c.3161A>T
Surrounding Variants
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
1 paper
NM_033395.2
p.Q1033R
c.3098A>G
1 paper
NM_033395.2
p.H1075L
c.3224A>T
1 paper
NM_033395.2
p.S1023C
c.3068C>G
1 paper
NM_033395.2
p.S1022_S1023insT
c.3064_3068ins3
1 paper
NM_033395.2
p.I1017_Q1018del2
c.3049_3053del6
1 paper
NM_033395.2
p.L1096P
c.3287T>C
1 paper
NM_033395.2
p.T1012_K1013insT
c.3034_3038ins3
1 paper
NM_033395.2
p.V1110delFs
c.3328delG
1 paper
NM_033395.2
p.R984K
c.2951G>A
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