Varaico: Literature-Extracted Genetic Variants

Gene:CEP57L1

CEP57L1

19 papers

Pfam Domains

Cep57_CLDaa 54–114UCSCCentrosome localisation domain of Cep57
Cep57_CLDaa 54–231UCSCCentrosome localisation domain of Cep57
Cep57_MT_bdaa 311–384UCSCCentrosome microtubule-binding domain of Cep57

Gene Aliases

HGNC Name

centrosomal protein 57 like 1

HGNC Previous Symbol

C6orf182

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_001271852.3
p.M400I
c.1200G>A
2 papers
NM_001271852.3
p.M400I
c.1200G>C
2 papers
NM_001271852.3
p.M400I
c.1200G>T
1 paper
NM_001271852.3
p.S12G
c.34A>G
1 paper
NM_001271852.3
p.R19K
c.56G>A
1 paper
NM_001271852.3
p.L62V
c.184C>G
1 paper
NM_001271852.3
p.R68C
c.202C>T
1 paper
NM_001271852.3
p.E95D
c.285G>C
1 paper
NM_001271852.3
p.E95D
c.285G>T
1 paper
NM_001271852.3
p.C126Y
c.377G>A
1 paper
NM_001271852.3
p.T187K
c.560C>A
1 paper
NM_001271852.3
p.E193_D194Splc
c.580-1G>C
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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."