Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.E945Q

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
6 papers
NM_014810.5
p.E945Q
c.2833G>C
Surrounding Variants
1 paper
NM_014810.5
p.G941insFs
c.2823dupT
1 paper
NM_014810.5
p.T956S
c.2866A>T
1 paper
NM_014810.5
p.E924Q
c.2770G>C
1 paper
NM_014810.5
p.C966C
c.2898T>C
1 paper
NM_014810.5
p.Q968E
c.2902C>G
1 paper
NM_014810.5
p.L975R
c.2924T>G
1 paper
NM_014810.5
p.G912R
c.2734G>C
1 paper
NM_014810.5
p.L988F
c.2962C>T
1 paper
NM_014810.5
p.R892K
c.2675G>A
1 paper
NM_014810.5
p.R892T
c.2675G>C
1 paper
NM_014810.5
p.A876V
c.2627C>T
1 paper
NM_014810.5
p.Y1025Y
c.3075T>C
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