Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.N148D

CPLANE1

384 papers

RefSeq Summary

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012].

Pfam Domains

Joubertaa 2893–3244UCSCJoubert syndrome-associated

Gene Aliases

HGNC Name

ciliogenesis and planar polarity effector complex subunit 1

HGNC Previous Symbol

C5orf42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384732.1
p.N148D
c.442A>G
Surrounding Variants
1 paper
NM_001384732.1
p.L146L
c.438A>G
1 paper
NM_001384732.1
p.S152F
c.455C>T
2 papers
NM_001384732.1
p.E142K
c.424G>A
1 paper
NM_001384732.1
p.R160W
c.478C>T
1 paper
NM_001384732.1
p.W161G
c.481T>G
1 paper
NM_001384732.1
p.P134L
c.401C>T
6 papers
NM_001384732.1
p.I165fs
c.493_494fs
7 papers
NM_001384732.1
p.I165delFs
c.493delT
1 paper
NM_001384732.1
p.I165fs
c.493_494fs
1 paper
NM_001384732.1
p.Q163_A169delFs
c.487_506del20
1 paper
NM_001384732.1
p.S123F
c.368C>T
1 paper
NM_001384732.1
p.P173R
c.518C>G
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