Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.I1344_Q1345insC

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.I1344_Q1345insC
c.4030_4034ins3
Surrounding Variants
5 papers
NM_001384732.1
p.Q1345R
c.4034A>G
1 paper
NM_001384732.1
p.E1342K
c.4024G>A
1 paper
NM_001384732.1
p.R1336Q
c.4007G>A
9 papers
NM_001384732.1
p.R1336W
c.4006C>T
1 paper
NM_001384732.1
p.I1352V
c.4054A>G
2 papers
NM_001384732.1
p.P1333L
c.3998C>T
3 papers
NM_001384732.1
p.P1356L
c.4067C>T
2 papers
NM_001384732.1
p.W1327C
c.3981G>T
2 papers
NM_001384732.1
p.W1327C
c.3981G>C
1 paper
NM_001384732.1
p.K1360K
c.4080G>A
1 paper
NM_001384732.1
p.C1321fs
c.3961_3962fs
1 paper
NM_001384732.1
p.C1321delFs
c.3962delC
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