Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.L61P

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
2 papers
NM_001353108.3
p.L61P
c.182T>C
Surrounding Variants
1 paper
NM_001353108.3
p.L61_K62delins
c.183_184delinsCT
1 paper
NM_001353108.3
p.E60G
c.179A>G
1 paper
NM_001353108.3
p.R65G
c.193A>G
1 paper
NM_001353108.3
p.R57H
c.170G>A
1 paper
NM_001353108.3
p.I56V
c.166A>G
2 papers
NM_001353108.3
p.W43*
c.129G>A
2 papers
NM_001353108.3
p.W43*
c.128G>A
1 paper
NM_001353108.3
p.I34K
c.101T>A
1 paper
NM_001353108.3
p.E24G
c.71A>G
1 paper
NM_001353108.3
p.L18F
c.54G>C
1 paper
NM_001353108.3
p.L18F
c.54G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."