Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.L1132P

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.L1132P
c.3395T>C
Surrounding Variants
1 paper
NM_001384732.1
p.L1133L
c.3397C>T
1 paper
NM_001384732.1
p.I1134K
c.3401T>A
6 papers
NM_001384732.1
p.S1127L
c.3380C>T
1 paper
NM_001384732.1
p.S1127A
c.3379T>G
1 paper
NM_001384732.1
p.K1138R
c.3413A>G
1 paper
NM_001384732.1
p.A1117V
c.3350C>T
2 papers
NM_001384732.1
p.L1106M
c.3316C>A
1 paper
NM_001384732.1
p.P1158P
c.3474A>T
1 paper
NM_001384732.1
p.D1103H
c.3307G>C
2 papers
NM_001384732.1
p.A1165V
c.3494C>T
5 papers
NM_001384732.1
p.D1097Splc
c.3290-2A>G
1 paper
NM_001384732.1
p.D1174Y
c.3520G>T
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