Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.I572L

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
2 papers
NM_001384732.1
p.I572L
c.1714A>C
Surrounding Variants
2 papers
NM_001384732.1
p.I572F
c.1714A>T
2 papers
NM_001384732.1
p.I572N
c.1715T>A
1 paper
NM_001384732.1
p.L569M
c.1705C>A
1 paper
NM_001384732.1
p.E568E
c.1704A>G
4 papers
NM_001384732.1
p.A579V
c.1736C>T
2 papers
NM_001384732.1
p.D563V
c.1688A>T
1 paper
NM_001384732.1
p.E561K
c.1681G>A
1 paper
NM_001384732.1
p.I584_S585insGT
c.1750_1754ins6
1 paper
NM_001384732.1
p.V588M
c.1762G>A
1 paper
NM_001384732.1
p.H554L
c.1661A>T
1 paper
NM_001384732.1
p.H554N
c.1660C>A
1 paper
NM_001384732.1
p.E590A
c.1769A>C
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