Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.I608V

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.I608V
c.1822A>G
Surrounding Variants
1 paper
NM_001384732.1
p.Y607fs
c.1819_1820fs
3 papers
NM_001384732.1
p.Y607insFs
c.1819_1820insT
9 papers
NM_001384732.1
p.Y607delFs
c.1819delA
6 papers
NM_001384732.1
p.Y607fs
c.1819_1820fs
1 paper
NM_001384732.1
p.H604Y
c.1810C>T
1 paper
NM_001384732.1
p.I602M
c.1806C>G
1 paper
NM_001384732.1
p.K613N
c.1839A>T
1 paper
NM_001384732.1
p.K613N
c.1839A>C
3 papers
NM_001384732.1
p.L595*
c.1784T>G
3 papers
NM_001384732.1
p.L595*
c.1784T>A
1 paper
NM_001384732.1
p.E590A
c.1769A>C
1 paper
NM_001384732.1
p.S627P
c.1879T>C
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