Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.V151L

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.V151L
c.451G>T
Surrounding Variants
1 paper
NM_001330691.3
p.V151L
c.451G>C
12 papers
NM_001330691.3
p.L150S
c.449T>C
1 paper
NM_001330691.3
p.S154A
c.460T>G
1 paper
NM_001330691.3
p.S147*
c.440C>A
4 papers
NM_001330691.3
p.S147L
c.440C>T
1 paper
NM_001330691.3
p.C158F
c.473G>T
1 paper
NM_001330691.3
p.K142_G143Splc
c.427-1G>C
1 paper
NM_001330691.3
p.G143_N145del3
c.427_434del9
1 paper
NM_001330691.3
p.G164D
c.491G>A
7 papers
NM_001330691.3
p.I167Splc
c.499+1G>T
6 papers
NM_001330691.3
p.I167Splc
c.499+5G>A
1 paper
NM_001330691.3
p.I167Splc
c.499+24C>G
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