Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.K2267N

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.K2267N
c.6801G>T
Surrounding Variants
1 paper
NM_014810.5
p.K2267N
c.6801G>C
1 paper
NM_014810.5
p.E2251G
c.6752A>G
1 paper
NM_014810.5
p.K2286_L2287del2
c.6856_6860del6
1 paper
NM_014810.5
p.Q2291L
c.6872A>T
1 paper
NM_014810.5
p.A2318S
c.6952G>T
1 paper
NM_014810.5
p.N2321_H2323delFs
c.6962_6968del7
1 paper
NM_014810.5
p.R2198*
c.6592C>T
1 paper
NM_014810.5
p.M2338T
c.7013T>C
1 paper
NM_014810.5
p.M2338I
c.7014G>A
1 paper
NM_014810.5
p.M2338I
c.7014G>C
1 paper
NM_014810.5
p.M2338I
c.7014G>T
2 papers
NM_014810.5
p.R2178G
c.6532A>G
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