Varaico: Literature-Extracted Genetic Variants

Gene:CEP164

CEP164

235 papers

RefSeq Summary

This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localiz...

Gene Aliases

HGNC Name

centrosomal protein 164

HGNC Alias Symbols

KIAA1052; NPHP15

Papers
RefSeq ID
Protein change
DNA change
1–12 of 289 variants
14 papers
NM_014956.5
p.Q1410*
c.4228C>T
12 papers
NM_014956.5
p.R576*
c.1726C>T
11 papers
NM_014956.5
p.R93W
c.277C>T
9 papers
NM_014956.5
p.K113delFs
c.337delA
9 papers
NM_014956.5
p.Q525*
c.1573C>T
7 papers
NM_014956.5
p.Q11P
c.32A>C
7 papers
NM_014956.5
p.T988S
c.2962A>T
7 papers
NM_014956.5
p.T988S
c.2963C>G
6 papers
NM_014956.5
p.P127H
c.380C>A
6 papers
NM_014956.5
p.S407F
c.1220C>T
6 papers
NM_014956.5
p.Q1019*
c.3055C>T
5 papers
NM_014956.5
p.R151Q
c.452G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."