Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.C283fs

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.C283fs
c.847_848fs
Surrounding Variants
2 papers
NM_006642.5
p.C283*
c.849T>A
4 papers
NM_006642.5
p.L282_C283delFs
c.845_848del4
1 paper
NM_006642.5
p.K285R
c.854A>G
1 paper
NM_006642.5
p.R278H
c.833G>A
1 paper
NM_006642.5
p.C276delFs
c.828delT
1 paper
NM_006642.5
p.A291T
c.871G>A
1 paper
NM_006642.5
p.A272T
c.814G>A
1 paper
NM_006642.5
p.K267*
c.799A>T
2 papers
NM_006642.5
p.E262*
c.784G>T
2 papers
NM_006642.5
p.L260V
c.778C>G
1 paper
NM_006642.5
p.L308L
c.924G>T
1 paper
NM_006642.5
p.K310R
c.929A>G
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