Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1

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
1–12 of 580 variants
12 papers
NM_001384732.1
p.A1200V
c.3599C>T
9 papers
NM_001384732.1
p.Y607delFs
c.1819delA
9 papers
NM_001384732.1
p.R1193C
c.3577C>T
9 papers
NM_001384732.1
p.R1336W
c.4006C>T
7 papers
NM_001384732.1
p.I165delFs
c.493delT
7 papers
NM_001384732.1
p.P1794L
c.5381C>T
6 papers
NM_001384732.1
p.I165fs
c.493_494fs
6 papers
NM_001384732.1
p.Y607fs
c.1819_1820fs
6 papers
NM_001384732.1
p.S1127L
c.3380C>T
6 papers
NM_001384732.1
p.K1186fs
c.3556_3557fs
6 papers
NM_001384732.1
p.T2302M
c.6905C>T
6 papers
NM_001384732.1
p.R2467Splc
c.7400+1G>A
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