Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.N227insFs

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.N227insFs
c.680dupA
Surrounding Variants
1 paper
NM_014810.5
p.R228I
c.683G>T
1 paper
NM_014810.5
p.E224Q
c.670G>C
1 paper
NM_014810.5
p.S232N
c.695G>A
1 paper
NM_014810.5
p.S232I
c.695G>T
1 paper
NM_014810.5
p.E233D
c.699G>C
1 paper
NM_014810.5
p.G216E
c.647G>A
1 paper
NM_014810.5
p.S239insFs
c.715dupT
1 paper
NM_014810.5
p.S239F
c.716C>T
1 paper
NM_014810.5
p.R214_M215del2
c.640_644del6
1 paper
NM_014810.5
p.N241Y
c.721A>T
1 paper
NM_014810.5
p.E210K
c.628G>A
1 paper
NM_014810.5
p.H245Y
c.733C>T
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