Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.I1905M

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.I1905M
c.5715A>G
Surrounding Variants
1 paper
NM_014810.5
p.E1920E
c.5760A>G
1 paper
NM_014810.5
p.R1890C
c.5668C>T
2 papers
NM_014810.5
p.W1878C
c.5634G>C
2 papers
NM_014810.5
p.W1878C
c.5634G>T
1 paper
NM_014810.5
p.E1874G
c.5621A>G
1 paper
NM_014810.5
p.R1861Q
c.5582G>A
1 paper
NM_014810.5
p.E1941G
c.5822A>G
1 paper
NM_014810.5
p.S1958F
c.5873C>T
1 paper
NM_014810.5
p.E1959K
c.5875G>A
1 paper
NM_014810.5
p.S1987C
c.5960C>G
1 paper
NM_014810.5
p.R2013G
c.6037A>G
1 paper
NM_014810.5
p.P2021S
c.6061C>T
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