Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.N65S

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.N65S
c.194A>G
Surrounding Variants
1 paper
NM_001330691.3
p.P69S
c.205C>T
2 papers
NM_001330691.3
p.T61S
c.182C>G
4 papers
NM_001330691.3
p.V71delFs
c.211delG
1 paper
NM_001330691.3
p.V71fs
c.211_212fs
1 paper
NM_001330691.3
p.W55*
c.165G>A
1 paper
NM_001330691.3
p.W55*
c.164G>A
1 paper
NM_001330691.3
p.V53L
c.157G>C
1 paper
NM_001330691.3
p.V53L
c.157G>T
1 paper
NM_001330691.3
p.P79S
c.235C>T
1 paper
NM_001330691.3
p.L50F
c.148C>T
1 paper
NM_001330691.3
p.R49S
c.145C>A
1 paper
NM_001330691.3
p.D48delFs
c.144delC
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