Varaico: Literature-Extracted Genetic Variants

Gene:CEP350

CEP350

187 papers

RefSeq Summary

The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous orga...

Pfam Domains

CAP_GLYaa 2499–2563UCSCCAP-Gly domain
DUF4378aa 2922–3099UCSCDomain of unknown function (DUF4378)

Gene Aliases

HGNC Name

centrosomal protein 350

HGNC Alias Symbols

KIAA0480; CAP350

Papers
RefSeq ID
Protein change
DNA change
1–12 of 311 variants
7 papers
NM_014810.5
p.R77G
c.229A>G
6 papers
NM_014810.5
p.E945Q
c.2833G>C
3 papers
NM_014810.5
p.T2044P
c.6130A>C
2 papers
NM_014810.5
p.L206M
c.616T>A
2 papers
NM_014810.5
p.S424T
c.1270T>A
2 papers
NM_014810.5
p.N520H
c.1558A>C
2 papers
NM_014810.5
p.D522G
c.1565A>G
2 papers
NM_014810.5
p.Y1478C
c.4433A>G
2 papers
NM_014810.5
p.D1499H
c.4495G>C
2 papers
NM_014810.5
p.W1878C
c.5634G>C
2 papers
NM_014810.5
p.W1878C
c.5634G>T
2 papers
NM_014810.5
p.R2178G
c.6532A>G
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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."