Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.C236*

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
1 paper
NM_006642.5
p.C236*
c.708T>A
Surrounding Variants
1 paper
NM_006642.5
p.E237D
c.711A>C
1 paper
NM_006642.5
p.E237D
c.711A>T
1 paper
NM_006642.5
p.E234K
c.700G>A
1 paper
NM_006642.5
p.E234*
c.700G>T
1 paper
NM_006642.5
p.E233D
c.699G>C
1 paper
NM_006642.5
p.E233D
c.699G>T
9 papers
NM_006642.5
p.Y232*
c.696T>A
9 papers
NM_006642.5
p.Y232*
c.696T>G
1 paper
NM_006642.5
p.E233del1
c.697_698delGAG
1 paper
NM_006642.5
p.K244_F245delFs
c.732_733delGT
1 paper
NM_006642.5
p.K244N
c.732G>C
1 paper
NM_006642.5
p.K244N
c.732G>T
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