Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.D199insFs

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.D199insFs
c.595_596insCT
Surrounding Variants
1 paper
NM_014810.5
p.R200Q
c.599G>A
1 paper
NM_014810.5
p.P201_A202insFs
c.603_604insG
1 paper
NM_014810.5
p.L206delFs
c.616delT
1 paper
NM_014810.5
p.T192I
c.575C>T
2 papers
NM_014810.5
p.L206M
c.616T>A
1 paper
NM_014810.5
p.Q207*
c.619C>T
1 paper
NM_014810.5
p.E210K
c.628G>A
1 paper
NM_014810.5
p.R214_M215del2
c.640_644del6
1 paper
NM_014810.5
p.G216E
c.647G>A
1 paper
NM_014810.5
p.R174W
c.520C>T
1 paper
NM_014810.5
p.E224Q
c.670G>C
1 paper
NM_014810.5
p.R171P
c.512G>C
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