Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.T2044P

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
3 papers
NM_014810.5
p.T2044P
c.6130A>C
Surrounding Variants
1 paper
NM_014810.5
p.T2044A
c.6130A>G
1 paper
NM_014810.5
p.L2057V
c.6169C>G
1 paper
NM_014810.5
p.L2061*
c.6182T>A
1 paper
NM_014810.5
p.R2078fs
c.6232_6233fs
1 paper
NM_014810.5
p.P2021S
c.6061C>T
1 paper
NM_014810.5
p.R2013G
c.6037A>G
1 paper
NM_014810.5
p.D2098E
c.6294T>A
1 paper
NM_014810.5
p.K2103R
c.6308A>G
1 paper
NM_014810.5
p.S1987C
c.5960C>G
1 paper
NM_014810.5
p.E1959K
c.5875G>A
1 paper
NM_014810.5
p.S1958F
c.5873C>T
1 paper
NM_014810.5
p.E1941G
c.5822A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."