Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.R700_P702del3

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.R700_P702del3
c.2098_2105del9
Surrounding Variants
2 papers
NM_001112726.3
p.R700_P702del0
c.2099_2104del6
1 paper
NM_001112726.3
p.R700fs
c.2098_2099fs
1 paper
NM_001112726.3
p.R700insFs
c.2099_2100ins4
1 paper
NM_001112726.3
p.P689L
c.2066C>T
1 paper
NM_015005.3
p.R614C
c.1840C>T
1 paper
NM_001112726.3
p.R770fs
c.2308_2309fs
2 papers
NM_001112726.3
p.R770_S772del0
c.2309_2314del6
1 paper
NM_001112726.3
p.R770insFs
c.2309_2310ins4
1 paper
NM_001112726.3
p.S772R
c.2314A>C
1 paper
NM_001112726.3
p.S772R
c.2316C>A
1 paper
NM_001112726.3
p.S772R
c.2316C>G
1 paper
NM_001112726.3
p.A666delFs
c.1996delG
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