Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001330691.3
p.M1T
c.2T>C
1 paper
NM_001330691.3
p.M1insFs
c.3dupG
1 paper
NM_001330691.3
p.M1insFs
c.2dupT
1 paper
NM_001330691.3
p.M1delFs
c.2delT
1 paper
NM_001330691.3
p.D3Y
c.7G>T
1 paper
NM_001330691.3
p.V5delFs
c.14_15delTG
1 paper
NM_001330691.3
p.D14_F15del2
c.40_44del6
1 paper
NM_001330691.3
p.D14N
c.40G>A
1 paper
NM_001330691.3
p.D14_F15del1
c.42_44delCTT
2 papers
NM_001330691.3
p.S28S
c.84G>C
1 paper
NM_001330691.3
p.R39W
c.115C>T
1 paper
NM_001330691.3
p.V42_D44del3
c.124_131del9
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