Varaico: Literature-Extracted Genetic Variants

Gene:CEP57L1
Variant:p.E193_D194Splc

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
Selected Variant
1 paper
NM_001271852.3
p.E193_D194Splc
c.580-1G>C
Surrounding Variants
1 paper
NM_001271852.3
p.T187K
c.560C>A
1 paper
NM_001271852.3
p.C252ins3
c.754_755ins9
1 paper
NM_001271852.3
p.G266E
c.797G>A
1 paper
NM_001271852.3
p.K298M
c.893A>T
1 paper
NM_001271852.3
p.W305R
c.913T>A
1 paper
NM_001271852.3
p.W305R
c.913T>C
1 paper
NM_001271852.3
p.A308D
c.923C>A
1 paper
NM_001271852.3
p.C126Y
c.377G>A
1 paper
NM_001271852.3
p.E340K
c.1018G>A
1 paper
NM_001271852.3
p.E343K
c.1027G>A
1 paper
NM_001271852.3
p.D359Y
c.1075G>T
2 papers
NM_001271852.3
p.M400I
c.1200G>A
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