Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.Y418*

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.Y418*
c.1254T>G
Surrounding Variants
1 paper
NM_001384732.1
p.V420_T421delFs
c.1259_1263del5
3 papers
NM_001384732.1
p.R424*
c.1270C>T
1 paper
NM_001384732.1
p.L412insFs
c.1235_1236insA
1 paper
NM_001384732.1
p.Y411*
c.1233C>G
1 paper
NM_001384732.1
p.Y411*
c.1233C>A
1 paper
NM_001384732.1
p.D427G
c.1280A>G
1 paper
NM_001384732.1
p.R408W
c.1222C>T
1 paper
NM_001384732.1
p.S407insFs
c.1220_1221insT
1 paper
NM_001384732.1
p.H406R
c.1217A>G
1 paper
NM_001384732.1
p.M435I
c.1305G>T
1 paper
NM_001384732.1
p.M435I
c.1305G>C
1 paper
NM_001384732.1
p.M435I
c.1305G>A
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