Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.R680H

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
3 papers
NM_001353108.3
p.R680H
c.2039G>A
Surrounding Variants
1 paper
NM_001353108.3
p.E691K
c.2071G>A
1 paper
NM_001042383.2
p.Q490K
c.1468C>A
3 papers
NM_001353108.3
p.S651L
c.1952C>T
1 paper
NM_001353108.3
p.S639F
c.1916C>T
1 paper
NM_001353108.3
p.C618F
c.1853G>T
1 paper
NM_001353108.3
p.L612*
c.1835T>A
1 paper
NM_001353108.3
p.S611delFs
c.1833delT
2 papers
NM_001353108.3
p.Y574*
c.1722C>A
2 papers
NM_001353108.3
p.Y574*
c.1722C>G
1 paper
NM_001353108.3
p.R540R
c.1620G>A
1 paper
NM_001353108.3
p.C534Y
c.1601G>A
1 paper
NM_001353108.3
p.Q532Q
c.1596G>A
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