Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.E447insFs

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
3 papers
NM_006642.5
p.E447insFs
c.1340_1341insG
Surrounding Variants
1 paper
NM_006642.5
p.R446Q
c.1337G>A
1 paper
NM_006642.5
p.R446W
c.1336C>T
1 paper
NM_006642.5
p.S445insFs
c.1335dupT
2 papers
NM_006642.5
p.T451insFs
c.1352_1353insG
1 paper
NM_006642.5
p.Q442fs
c.1324_1325fs
1 paper
NM_006642.5
p.Q442insFs
c.1324dupC
1 paper
NM_006642.5
p.N434fs
c.1300_1301fs
2 papers
NM_006642.5
p.N434delFs
c.1300delA
1 paper
NM_006642.5
p.E423_V425delFs
c.1269_1273del5
2 papers
NM_006642.5
p.E419delFs
c.1255delG
1 paper
NM_006642.5
p.I415fs
c.1243_1244fs
1 paper
NM_006642.5
p.Y459H
c.1375T>C
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