Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.Q679H

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.Q679H
c.2037G>T
Surrounding Variants
1 paper
NM_001384732.1
p.Q679H
c.2037G>C
1 paper
NM_001384732.1
p.G678delFs
c.2033delC
1 paper
NM_001384732.1
p.G678fs
c.2032_2033fs
1 paper
NM_001384732.1
p.E683Q
c.2047G>C
1 paper
NM_001384732.1
p.L686_A687delFs
c.2057_2060del4
1 paper
NM_001384732.1
p.I661I
c.1983A>C
1 paper
NM_001384732.1
p.V702L
c.2104G>T
1 paper
NM_001384732.1
p.V702L
c.2104G>C
1 paper
NM_001384732.1
p.L705P
c.2114T>C
1 paper
NM_001384732.1
p.Y653C
c.1958A>G
1 paper
NM_001384732.1
p.E708fs
c.2122_2123fs
1 paper
NM_001384732.1
p.Q642E
c.1924C>G
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