Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.M301V

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
2 papers
NM_001330691.3
p.M301V
c.901A>G
Surrounding Variants
2 papers
NM_001330691.3
p.S300P
c.898T>C
2 papers
NM_001330691.3
p.D298fs
c.892_893fs
4 papers
NM_001330691.3
p.D298Splc
c.893-1G>A
1 paper
NM_001330691.3
p.L310F
c.928C>T
1 paper
NM_001330691.3
p.A316S
c.946G>T
3 papers
NM_001330691.3
p.E319Q
c.955G>C
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.V328A
c.983T>C
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.I342M
c.1026A>G
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