Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.K2509E

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.K2509E
c.7525A>G
Surrounding Variants
1 paper
NM_001384732.1
p.K2509K
c.7527A>G
1 paper
NM_001384732.1
p.K2511R
c.7532A>G
1 paper
NM_001384732.1
p.I2499insFs
c.7495dupA
1 paper
NM_001384732.1
p.I2499fs
c.7495_7496fs
1 paper
NM_001384732.1
p.E2495fs
c.7483_7484fs
1 paper
NM_001384732.1
p.E2495insFs
c.7484_7485insA
2 papers
NM_001384732.1
p.R2493Q
c.7478G>A
6 papers
NM_001384732.1
p.R2493*
c.7477C>T
1 paper
NM_001384732.1
p.F2492delFs
c.7476delA
2 papers
NM_001384732.1
p.R2493fs
c.7477_7478fs
2 papers
NM_001384732.1
p.Q2477*
c.7429C>T
2 papers
NM_001384732.1
p.Q2468*
c.7402C>T
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