Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.W190*

CEP78

108 papers

RefSeq Summary

This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-termina...

Pfam Domains

LRR_6aa 146–169UCSCLeucine Rich repeat
LRR_6aa 255–277UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

centrosomal protein 78

HGNC Previous Symbol

C9orf81

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330691.3
p.W190*
c.569G>A
Surrounding Variants
1 paper
NM_001330691.3
p.W190*
c.570G>A
1 paper
NM_001330691.3
p.A197T
c.589G>A
1 paper
NM_001330691.3
p.N182S
c.545A>G
1 paper
NM_001330691.3
p.K201_Y202insFs
c.603_604insG
6 papers
NM_001330691.3
p.K179fs
c.535_536fs
1 paper
NM_001330691.3
p.L178R
c.533T>G
10 papers
NM_001330691.3
p.L178delFs
c.534delT
1 paper
NM_001330691.3
p.S175C
c.524C>G
1 paper
NM_001330691.3
p.S174G
c.520A>G
2 papers
NM_001330691.3
p.I172R
c.515T>G
1 paper
NM_001330691.3
p.G171V
c.512G>T
1 paper
NM_001330691.3
p.I167Splc
c.499+24C>G
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