Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.S2264F

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.S2264F
c.6791C>T
Surrounding Variants
1 paper
NM_001384732.1
p.F2267ins2
c.6800_6801ins6
1 paper
NM_001384732.1
p.P2255S
c.6763C>T
1 paper
NM_001384732.1
p.Q2248_V2249insA
c.6742_6746ins3
1 paper
NM_001384732.1
p.S2245R
c.6735T>G
1 paper
NM_001384732.1
p.S2245R
c.6735T>A
1 paper
NM_001384732.1
p.S2245R
c.6733A>C
4 papers
NM_001384732.1
p.S2287N
c.6860G>A
1 paper
NM_001384732.1
p.Q2234*
c.6700C>T
2 papers
NM_001384732.1
p.S2232F
c.6695C>T
1 paper
NM_001384732.1
p.Q2300delFs
c.6898delG
6 papers
NM_001384732.1
p.T2302M
c.6905C>T
1 paper
NM_001384732.1
p.P2226S
c.6676C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."