Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.D79E

SDCCAG8

155 papers

RefSeq Summary

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal cil...

Pfam Domains

CCCAPaa 6–706UCSCCentrosomal colon cancer autoantigen protein family

Gene Aliases

HGNC Name

SHH signaling and ciliogenesis regulator SDCCAG8

HGNC Alias Symbols

NY-CO-8; CCCAP; SLSN7; NPHP10; BBS16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006642.5
p.D79E
c.237T>A
Surrounding Variants
2 papers
NM_006642.5
p.D79E
c.237T>G
2 papers
NM_006642.5
p.R82H
c.245G>A
1 paper
NM_006642.5
p.R82L
c.245G>T
1 paper
NM_006642.5
p.Q76R
c.227A>G
1 paper
NM_006642.5
p.Q76*
c.226C>T
1 paper
NM_006642.5
p.V74Splc
c.221-1G>A
2 papers
NM_006642.5
p.V74Splc
c.221-2A>G
1 paper
NM_006642.5
p.E88G
c.263A>G
3 papers
NM_006642.5
p.P93L
c.278C>T
2 papers
NM_006642.5
p.P93P
c.279G>A
1 paper
NM_006642.5
p.L102insFs
c.305_306ins5
1 paper
NM_006642.5
p.V74Splc
c.221-188C>A
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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."