Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.D1499H

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
2 papers
NM_014810.5
p.D1499H
c.4495G>C
Surrounding Variants
1 paper
NM_014810.5
p.Q1491E
c.4471C>G
1 paper
NM_014810.5
p.H1484N
c.4450C>A
1 paper
NM_014810.5
p.D1479_H1480insC
c.4435_4439ins3
2 papers
NM_014810.5
p.Y1478C
c.4433A>G
1 paper
NM_014810.5
p.G1513E
c.4538G>A
1 paper
NM_014810.5
p.D1516Y
c.4546G>T
1 paper
NM_014810.5
p.S1517A
c.4549T>G
1 paper
NM_014810.5
p.Y1522D
c.4564T>G
1 paper
NM_014810.5
p.E1531K
c.4591G>A
1 paper
NM_014810.5
p.E1454G
c.4361A>G
1 paper
NM_014810.5
p.A1448T
c.4342G>A
1 paper
NM_014810.5
p.D1379E
c.4137C>A
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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."