Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.Q638K

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.Q638K
c.1912C>A
Surrounding Variants
1 paper
NM_001384732.1
p.F637L
c.1911T>G
1 paper
NM_001384732.1
p.F637L
c.1911T>A
1 paper
NM_001384732.1
p.F637L
c.1909T>C
1 paper
NM_001384732.1
p.Q642E
c.1924C>G
1 paper
NM_001384732.1
p.R628I
c.1883G>T
2 papers
NM_001384732.1
p.R628K
c.1883G>A
1 paper
NM_001384732.1
p.S627P
c.1879T>C
1 paper
NM_001384732.1
p.Y653C
c.1958A>G
1 paper
NM_001384732.1
p.I661I
c.1983A>C
1 paper
NM_001384732.1
p.K613N
c.1839A>T
1 paper
NM_001384732.1
p.K613N
c.1839A>C
1 paper
NM_001384732.1
p.I608V
c.1822A>G
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