Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.Q536L

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
Selected Variant
1 paper
NM_014810.5
p.Q536L
c.1607A>T
Surrounding Variants
1 paper
NM_014810.5
p.D534N
c.1600G>A
2 papers
NM_014810.5
p.D522G
c.1565A>G
2 papers
NM_014810.5
p.N520H
c.1558A>C
1 paper
NM_014810.5
p.S567C
c.1699A>T
1 paper
NM_014810.5
p.R492_S493insC
c.1474_1478ins3
1 paper
NM_014810.5
p.P583L
c.1748C>T
1 paper
NM_014810.5
p.H483L
c.1448A>T
1 paper
NM_014810.5
p.D592delFs
c.1774_1775delGA
1 paper
NM_014810.5
p.D594N
c.1780G>A
1 paper
NM_014810.5
p.E595_V596insCT
c.1783_1787ins6
1 paper
NM_014810.5
p.A471_E472insA
c.1411_1415ins3
1 paper
NM_014810.5
p.Q603_Q604insG
c.1807_1811ins3
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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."