Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.P375S

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.P375S
c.1123C>T
Surrounding Variants
1 paper
NM_001384732.1
p.Q376E
c.1126C>G
1 paper
NM_001384732.1
p.T379M
c.1136C>T
1 paper
NM_001384732.1
p.N384I
c.1151A>T
1 paper
NM_001384732.1
p.V387V
c.1161T>G
1 paper
NM_001384732.1
p.S394delFs
c.1181delC
1 paper
NM_001384732.1
p.M397I
c.1191G>T
1 paper
NM_001384732.1
p.M397I
c.1191G>C
1 paper
NM_001384732.1
p.M397I
c.1191G>A
1 paper
NM_001384732.1
p.H406R
c.1217A>G
1 paper
NM_001384732.1
p.S407insFs
c.1220_1221insT
1 paper
NM_001384732.1
p.R408W
c.1222C>T
1 paper
NM_001384732.1
p.Y411*
c.1233C>G
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