Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B

CEP170B

97 papers

Pfam Domains

FHAaa 23–90UCSCFHA domain
FHAaa 23–90UCSCFHA domain
CEP170_Caa 842–1525UCSCCEP170 C-terminus

Gene Aliases

HGNC Name

centrosomal protein 170B

HGNC Previous Symbol

KIAA0284

Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
4 papers
NM_001112726.3
p.P234del1
c.700_702delCCG
4 papers
NM_001112726.3
p.R700_P702del3
c.2098_2105del9
3 papers
NM_001112726.3
p.S237L
c.710C>T
3 papers
NM_001112726.3
p.T898P
c.2692A>C
2 papers
NM_001112726.3
p.T66M
c.197C>T
2 papers
NM_001112726.3
p.F89F
c.267C>T
2 papers
NM_001112726.3
p.P223S
c.667C>T
2 papers
NM_001112726.3
p.R700_P702del0
c.2099_2104del6
2 papers
NM_001112726.3
p.R770_S772del0
c.2309_2314del6
2 papers
NM_001112726.3
p.A840D
c.2519C>A
2 papers
NM_001112726.3
p.T910N
c.2729C>A
2 papers
NM_001112726.3
p.K968Q
c.2902A>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."