Varaico: Literature-Extracted Genetic Variants

Gene:CEP170
Variant:p.P683S

CEP170

158 papers

RefSeq Summary

The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein...

Pfam Domains

FHAaa 23–90UCSCFHA domain
CEP170_Caa 809–1506UCSCCEP170 C-terminus

Gene Aliases

HGNC Name

centrosomal protein 170

HGNC Previous Symbol

KIAA0470

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014812.3
p.P683S
c.2047C>T
Surrounding Variants
1 paper
NM_014812.3
p.T684K
c.2051C>A
9 papers
NM_014812.3
p.A694D
c.2081C>A
1 paper
NM_014812.3
p.V705V
c.2115A>G
1 paper
NM_014812.3
p.T712I
c.2135C>T
1 paper
NM_014812.3
p.S725C
c.2174C>G
2 papers
NM_014812.3
p.A631A
c.1893A>G
3 papers
NM_014812.3
p.T738I
c.2213C>T
1 paper
NM_014812.3
p.I618V
c.1852A>G
6 papers
NM_014812.3
p.S792*
c.2375C>G
6 papers
NM_014812.3
p.S792*
c.2375C>A
1 paper
NM_014812.3
p.R809T
c.2426G>C
1 paper
NM_014812.3
p.R835*
c.2503C>T
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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."