Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.Q494fs

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.Q494fs
c.1480_1481fs
Surrounding Variants
1 paper
NM_001384732.1
p.L493M
c.1477T>A
1 paper
NM_001384732.1
p.F487S
c.1460T>C
1 paper
NM_001384732.1
p.Q507*
c.1519C>T
1 paper
NM_001384732.1
p.R466Q
c.1397G>A
1 paper
NM_001384732.1
p.R466*
c.1396C>T
1 paper
NM_001384732.1
p.K461_G462insFs
c.1383_1384dupAG
1 paper
NM_001384732.1
p.G462fs
c.1384_1385fs
1 paper
NM_001384732.1
p.K457_P458Splc
c.1372-2A>G
1 paper
NM_001384732.1
p.A511S
c.1531G>T
1 paper
NM_001384732.1
p.L524delFs
c.1572delT
1 paper
NM_001384732.1
p.L535L
c.1603C>T
1 paper
NM_001384732.1
p.K448_I449insFs
c.1344_1345insC
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