Varaico: Literature-Extracted Genetic Variants

Gene:CEP170B
Variant:p.I846V

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
1 paper
NM_001112726.3
p.I846V
c.2536A>G
Surrounding Variants
2 papers
NM_001112726.3
p.A840D
c.2519C>A
1 paper
NM_001112726.3
p.S829_P830del2
c.2485_2489del6
3 papers
NM_001112726.3
p.T898P
c.2692A>C
1 paper
NM_001112726.3
p.R902R
c.2706C>T
2 papers
NM_001112726.3
p.T910N
c.2729C>A
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.T919M
c.2756C>T
1 paper
NM_001112726.3
p.S772R
c.2314A>C
1 paper
NM_001112726.3
p.R770insFs
c.2309_2310ins4
1 paper
NM_001112726.3
p.R770fs
c.2308_2309fs
2 papers
NM_001112726.3
p.R770_S772del0
c.2309_2314del6
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