Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.E474delFs

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
4 papers
NM_006642.5
p.E474delFs
c.1420delG
Surrounding Variants
1 paper
NM_006642.5
p.K473insFs
c.1417_1418insT
1 paper
NM_006642.5
p.E474fs
c.1420_1421fs
1 paper
NM_006642.5
p.E474fs
c.1420_1421fs
1 paper
NM_006642.5
p.H475Y
c.1423C>T
2 papers
NM_006642.5
p.E470G
c.1409A>G
4 papers
NM_006642.5
p.T482delFs
c.1444delA
3 papers
NM_006642.5
p.T482fs
c.1444_1445fs
1 paper
NM_006642.5
p.E487*
c.1459G>T
1 paper
NM_006642.5
p.Y459H
c.1375T>C
1 paper
NM_006642.5
p.K489insFs
c.1467dupA
2 papers
NM_006642.5
p.T451insFs
c.1352_1353insG
3 papers
NM_006642.5
p.E447insFs
c.1340_1341insG
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