Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.R77G

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
7 papers
NM_014810.5
p.R77G
c.229A>G
Surrounding Variants
1 paper
NM_014810.5
p.T72fs
c.214_215fs
1 paper
NM_014810.5
p.T72delFs
c.214_215delAC
1 paper
NM_014810.5
p.A71delFs
c.211delG
1 paper
NM_014810.5
p.K65N
c.195G>T
1 paper
NM_014810.5
p.M62I
c.186G>T
1 paper
NM_014810.5
p.V61L
c.181G>C
1 paper
NM_014810.5
p.L48_E49del1
c.143_145delTAG
1 paper
NM_014810.5
p.L41Q
c.122T>A
1 paper
NM_014810.5
p.D85E
c.255T>A
1 paper
NM_014810.5
p.W87S
c.260G>C
1 paper
NM_014810.5
p.W87C
c.261G>C
1 paper
NM_014810.5
p.W87C
c.261G>T
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