Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.R125C

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.R125C
c.373C>T
Surrounding Variants
1 paper
NM_014810.5
p.E126_P127delFs
c.378_379delAC
1 paper
NM_014810.5
p.E123K
c.367G>A
1 paper
NM_014810.5
p.R121G
c.361C>G
1 paper
NM_014810.5
p.L112delFs
c.335_336delTG
1 paper
NM_014810.5
p.S103Y
c.308C>A
1 paper
NM_014810.5
p.I92V
c.274A>G
1 paper
NM_014810.5
p.W87C
c.261G>C
1 paper
NM_014810.5
p.W87C
c.261G>T
1 paper
NM_014810.5
p.W87S
c.260G>C
1 paper
NM_014810.5
p.D85E
c.255T>A
7 papers
NM_014810.5
p.R77G
c.229A>G
1 paper
NM_014810.5
p.T72fs
c.214_215fs
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