Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.N223S

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.N223S
c.668A>G
Surrounding Variants
1 paper
NM_001353108.3
p.I220S
c.659T>G
1 paper
NM_001353108.3
p.R229H
c.686G>A
1 paper
NM_001353108.3
p.R229L
c.686G>T
1 paper
NM_001353108.3
p.R229delins
c.686_687delinsTT
2 papers
NM_001353108.3
p.R215Q
c.644G>A
1 paper
NM_001353108.3
p.E214insFs
c.642dupG
1 paper
NM_001353108.3
p.V234G
c.701T>G
1 paper
NM_001353108.3
p.D236N
c.706G>A
2 papers
NM_001353108.3
p.S241I
c.722G>T
1 paper
NM_001353108.3
p.Q203P
c.608A>C
1 paper
NM_001353108.3
p.S201F
c.602C>T
3 papers
NM_001353108.3
p.E199fs
c.595_596fs
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