Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.S2379A

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.S2379A
c.7135T>G
Surrounding Variants
1 paper
NM_001384732.1
p.P2383L
c.7148C>T
1 paper
NM_001384732.1
p.S2374*
c.7121C>G
1 paper
NM_001384732.1
p.S2374*
c.7121C>A
1 paper
NM_001384732.1
p.S2384L
c.7151C>T
1 paper
NM_001384732.1
p.P2373P
c.7119A>G
1 paper
NM_001384732.1
p.T2375_T2385del0
c.7125_7154del30
1 paper
NM_001384732.1
p.T2375_T2385del11
c.7123_7154del33
1 paper
NM_001384732.1
p.P2386R
c.7157C>G
1 paper
NM_001384732.1
p.I2390delFs
c.7169delA
2 papers
NM_001384732.1
p.K2367E
c.7099A>G
1 paper
NM_001384732.1
p.R2394*
c.7180A>T
1 paper
NM_001384732.1
p.P2360L
c.7079C>T
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