Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.Q2660H

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.Q2660H
c.7980G>C
Surrounding Variants
1 paper
NM_014810.5
p.Q2660H
c.7980G>T
1 paper
NM_014810.5
p.I2670V
c.8008A>G
1 paper
NM_014810.5
p.I2670F
c.8008A>T
1 paper
NM_014810.5
p.D2672N
c.8014G>A
1 paper
NM_014810.5
p.S2644F
c.7931C>T
1 paper
NM_014810.5
p.V2677insFs
c.8030_8031insA
1 paper
NM_014810.5
p.E2692K
c.8074G>A
1 paper
NM_014810.5
p.I2623T
c.7868T>C
1 paper
NM_014810.5
p.F2612S
c.7835T>C
1 paper
NM_014810.5
p.K2714E
c.8140A>G
1 paper
NM_014810.5
p.E2726delFs
c.8177delA
1 paper
NM_014810.5
p.N2728fs
c.8182_8183fs
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