Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.N385D

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.N385D
c.1153A>G
Surrounding Variants
1 paper
NM_001353108.3
p.A390G
c.1169C>G
1 paper
NM_001353108.3
p.E377E
c.1131A>G
3 papers
NM_001353108.3
p.Y375*
c.1125T>A
3 papers
NM_001353108.3
p.Y375*
c.1125T>G
1 paper
NM_001353108.3
p.K414M
c.1241A>T
1 paper
NM_001353108.3
p.T421S
c.1261A>T
1 paper
NM_001353108.3
p.T421S
c.1262C>G
1 paper
NM_001353108.3
p.L353V
c.1057C>G
1 paper
NM_001353108.3
p.E349D
c.1047G>C
1 paper
NM_001353108.3
p.E349D
c.1047G>T
1 paper
NM_001353108.3
p.S334insFs
c.1000dupT
1 paper
NM_001353108.3
p.R310Splc
c.930-2A>G
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