Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.Q185H

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.Q185H
c.555G>T
Surrounding Variants
3 papers
NM_001353108.3
p.Q185H
c.555G>C
1 paper
NM_001353108.3
p.A172S
c.514G>T
1 paper
NM_001353108.3
p.V167L
c.499G>C
1 paper
NM_001353108.3
p.V167L
c.499G>T
1 paper
NM_001353108.3
p.L161fs
c.481_482fs
1 paper
NM_001353108.3
p.R160S
c.478C>A
1 paper
NM_001353108.3
p.S153L
c.458C>T
1 paper
NM_001353108.3
p.I146T
c.437T>C
1 paper
NM_001353108.3
p.D135Y
c.403G>T
1 paper
NM_001353108.3
p.G127E
c.380G>A
1 paper
NM_001353108.3
p.E115A
c.344A>C
1 paper
NM_001353108.3
p.C108G
c.322T>G
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