Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.F2335fs

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.F2335fs
c.7003_7004fs
Surrounding Variants
1 paper
NM_001384732.1
p.F2335delFs
c.7005delA
4 papers
NM_001384732.1
p.S2333insFs
c.6997_6998insT
1 paper
NM_001384732.1
p.Q2330R
c.6989A>G
1 paper
NM_001384732.1
p.N2325_L2326del2
c.6973_6977del6
2 papers
NM_001384732.1
p.V2344delFs
c.7032delA
2 papers
NM_001384732.1
p.K2345fs
c.7033_7034fs
1 paper
NM_001384732.1
p.Q2319Q
c.6957A>G
1 paper
NM_001384732.1
p.Q2319fs
c.6955_6956fs
1 paper
NM_001384732.1
p.P2312L
c.6935C>T
1 paper
NM_001384732.1
p.P2360L
c.7079C>T
1 paper
NM_001384732.1
p.I2308delFs
c.6924delA
1 paper
NM_001384732.1
p.T2309fs
c.6925_6926fs
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