Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.L1697P

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.L1697P
c.5090T>C
Surrounding Variants
1 paper
NM_001384732.1
p.P1709S
c.5125C>T
1 paper
NM_001384732.1
p.N1666I
c.4997A>T
1 paper
NM_001384732.1
p.S1665fs
c.4993_4994fs
1 paper
NM_001384732.1
p.Q1662H
c.4986A>T
1 paper
NM_001384732.1
p.Q1662H
c.4986A>C
1 paper
NM_001384732.1
p.P1659L
c.4976C>T
1 paper
NM_001384732.1
p.N1738delFs
c.5213delT
1 paper
NM_001384732.1
p.S1648_S1649delFs
c.4942_4945del4
1 paper
NM_001384732.1
p.N1755D
c.5263A>G
1 paper
NM_001384732.1
p.R1756delFs
c.5267_5268delTC
2 papers
NM_001384732.1
p.S1772G
c.5314A>G
3 papers
NM_001384732.1
p.A1783D
c.5348C>A
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