Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.V328A

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.V328A
c.983T>C
Surrounding Variants
1 paper
NM_001330691.3
p.A335_K336del2
c.1003_1007del6
1 paper
NM_001330691.3
p.A335V
c.1004C>T
1 paper
NM_001330691.3
p.Y320*
c.960C>A
1 paper
NM_001330691.3
p.Y320*
c.960C>G
1 paper
NM_001330691.3
p.I342M
c.1026A>G
2 papers
NM_001330691.3
p.G345*
c.1033G>T
1 paper
NM_001330691.3
p.H348L
c.1043A>T
4 papers
NM_001330691.3
p.A352delFs
c.1056delT
3 papers
NM_001330691.3
p.T353fs
c.1057_1058fs
1 paper
NM_001330691.3
p.R355*
c.1063A>T
1 paper
NM_001330691.3
p.I356T
c.1067T>C
1 paper
NM_001330691.3
p.G357insFs
c.1069_1070insAC
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