Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.K1186delFs

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
5 papers
NM_001384732.1
p.K1186delFs
c.3557delT
Surrounding Variants
1 paper
NM_001384732.1
p.V1187I
c.3559G>A
1 paper
NM_001384732.1
p.K1186T
c.3557A>C
6 papers
NM_001384732.1
p.K1186fs
c.3556_3557fs
1 paper
NM_001384732.1
p.K1186E
c.3556A>G
1 paper
NM_001384732.1
p.S1188F
c.3563C>T
1 paper
NM_001384732.1
p.G1189*
c.3565G>T
3 papers
NM_001384732.1
p.R1184H
c.3551G>A
4 papers
NM_001384732.1
p.R1184C
c.3550C>T
1 paper
NM_001384732.1
p.K1181delFs
c.3542_3543delTT
1 paper
NM_001384732.1
p.K1181del1
c.3541_3542delTTT
9 papers
NM_001384732.1
p.R1193C
c.3577C>T
1 paper
NM_001384732.1
p.E1180A
c.3539A>C
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