Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.N237S

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
3 papers
NM_001330691.3
p.N237S
c.710A>G
Surrounding Variants
1 paper
NM_001330691.3
p.L239insFs
c.715dupC
1 paper
NM_001330691.3
p.L239F
c.715C>T
1 paper
NM_001330691.3
p.T233A
c.697A>G
1 paper
NM_001330691.3
p.R231C
c.691C>T
1 paper
NM_001330691.3
p.A227V
c.680C>T
1 paper
NM_001330691.3
p.A227insFs
c.680dupC
1 paper
NM_001330691.3
p.S253C
c.757A>T
1 paper
NM_001330691.3
p.R217H
c.650G>A
1 paper
NM_001330691.3
p.L216F
c.646C>T
2 papers
NM_001330691.3
p.W212*
c.636G>A
4 papers
NM_001330691.3
p.W212*
c.635G>A
5 papers
NM_001330691.3
p.W212fs
c.634_635fs
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