Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.V306L

CEP63

69 papers

RefSeq Summary

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal ce...

Pfam Domains

CEP63aa 18–280UCSCCentrosomal protein of 63 kDa
CC_CEP152-bindaa 664–699UCSCCEP63/DEUP1, CEP152 binding coiled coil

Gene Aliases

HGNC Name

centrosomal protein 63

HGNC Alias Symbol

FLJ13386

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001353108.3
p.V306L
c.916G>T
Surrounding Variants
1 paper
NM_001353108.3
p.V306L
c.916G>C
1 paper
NM_001353108.3
p.I309I
c.927A>C
1 paper
NM_001353108.3
p.T302S
c.905C>G
1 paper
NM_001353108.3
p.T302S
c.904A>T
1 paper
NM_001353108.3
p.N301I
c.902A>T
1 paper
NM_001353108.3
p.E263_A264Splc
c.790-2A>G
1 paper
NM_001353108.3
p.Q248E
c.742C>G
2 papers
NM_001353108.3
p.S241I
c.722G>T
1 paper
NM_001353108.3
p.D236N
c.706G>A
1 paper
NM_001353108.3
p.V234G
c.701T>G
1 paper
NM_001353108.3
p.R229H
c.686G>A
1 paper
NM_001353108.3
p.R229L
c.686G>T
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