Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.P234del1

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
Selected Variant
4 papers
NM_001112726.3
p.P234del1
c.700_702delCCG
Surrounding Variants
1 paper
NM_001112726.3
p.T230T
c.690G>A
3 papers
NM_001112726.3
p.S237L
c.710C>T
2 papers
NM_001112726.3
p.P223S
c.667C>T
1 paper
NM_001112726.3
p.P248L
c.743C>T
1 paper
NM_001112726.3
p.G255V
c.764G>T
1 paper
NM_001112726.3
p.A259V
c.776C>T
1 paper
NM_015005.3
p.P191R
c.572C>G
1 paper
NM_001112726.3
p.P198P
c.594A>C
1 paper
NM_001112726.3
p.S277delFs
c.829_830delAG
1 paper
NM_001112726.3
p.R293C
c.877C>T
1 paper
NM_001112726.3
p.P298L
c.893C>T
1 paper
NM_001112726.3
p.W317L
c.950G>T
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