Varaico: Literature-Extracted Genetic Variants

Gene:CDC27
Variant:p.L254*

CDC27

289 papers

RefSeq Summary

The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaph...

Pfam Domains

ANAPC3aa 17–95UCSCAnaphase-promoting complex, cyclosome, subunit 3
TPR_1aa 567–600UCSCTetratricopeptide repeat
TPR_8aa 600–633UCSCTetratricopeptide repeat
TPR_1aa 635–668UCSCTetratricopeptide repeat
TPR_8aa 669–701UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

cell division cycle 27

HGNC Previous Symbols

D0S1430E; D17S978E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_001256.6
p.L254*
c.761T>G
Surrounding Variants
11 papers
NM_001256.6
p.L254*
c.761T>A
2 papers
NM_001256.6
p.L254F
c.762A>T
2 papers
NM_001256.6
p.L254F
c.762A>C
3 papers
NM_001256.6
p.S252T
c.754T>A
15 papers
NM_001256.6
p.N260H
c.778A>C
1 paper
NM_001256.6
p.N260S
c.779A>G
1 paper
NM_001256.6
p.N260_K261ins5
c.780_781ins15
1 paper
NM_001256.6
p.K261ins1
c.781_782insGGG
2 papers
NM_001256.6
p.V245L
c.733G>C
4 papers
NM_001256.6
p.T264P
c.790A>C
2 papers
NM_001256.6
p.G265D
c.794G>A
2 papers
NM_001256.6
p.R266*
c.796C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."