Varaico: Literature-Extracted Genetic Variants

Gene:CEP85L
Variant:p.S257G

CEP85L

55 papers

RefSeq Summary

The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found fo...

Pfam Domains

CC4_CEP85aa 606–685UCSCCentrosomal protein of 85 kDa-like, CC4 coiled-coil domain

Gene Aliases

HGNC Name

centrosomal protein 85L

HGNC Previous Symbol

C6orf204

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042475.3
p.S257G
c.769A>G
Surrounding Variants
1 paper
NM_001042475.3
p.P251T
c.751C>A
1 paper
NM_001042475.3
p.R248W
c.742A>T
1 paper
NM_001042475.3
p.I199V
c.595A>G
1 paper
NM_001042475.3
p.D316E
c.948T>G
1 paper
NM_001042475.3
p.D316E
c.948T>A
1 paper
NM_001042475.3
p.L183L
c.549G>A
1 paper
NM_001042475.3
p.D166V
c.497A>T
4 papers
NM_001042475.3
p.S137G
c.409A>G
2 papers
NM_001042475.3
p.D78Y
c.232G>T
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