Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.P2203T

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.P2203T
c.6607C>A
Surrounding Variants
1 paper
NM_001384732.1
p.L2212R
c.6635T>G
1 paper
NM_001384732.1
p.L2182F
c.6546A>T
1 paper
NM_001384732.1
p.L2182F
c.6546A>C
1 paper
NM_001384732.1
p.P2226S
c.6676C>T
1 paper
NM_001384732.1
p.S2179Y
c.6536C>A
1 paper
NM_001384732.1
p.P2177S
c.6529C>T
1 paper
NM_001384732.1
p.K2172_G2174delFs
c.6515_6522del8
1 paper
NM_001384732.1
p.K2173_G2174delFs
c.6519_6520delCT
2 papers
NM_001384732.1
p.S2232F
c.6695C>T
1 paper
NM_001384732.1
p.Q2234*
c.6700C>T
1 paper
NM_001384732.1
p.K2172fs
c.6514_6515fs
1 paper
NM_001384732.1
p.R2171W
c.6511C>T
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