Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.R2467Splc

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
6 papers
NM_001384732.1
p.R2467Splc
c.7400+1G>A
Surrounding Variants
2 papers
NM_001384732.1
p.R2467fs
c.7399_7400fs
1 paper
NM_001384732.1
p.P2456L
c.7367C>T
1 paper
NM_001384732.1
p.V2451I
c.7351G>A
1 paper
NM_001384732.1
p.G2441D
c.7322G>A
1 paper
NM_001384732.1
p.L2433P
c.7298T>C
1 paper
NM_001384732.1
p.L2417V
c.7249C>G
1 paper
NM_001384732.1
p.T2415fs
c.7243_7244fs
2 papers
NM_001384732.1
p.T2415insFs
c.7243dupA
1 paper
NM_001384732.1
p.T2415delFs
c.7243delT
3 papers
NM_001384732.1
p.T2415fs
c.7243_7244fs
2 papers
NM_001384732.1
p.Q2468*
c.7402C>T
2 papers
NM_001384732.1
p.Q2477*
c.7429C>T
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