Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.E378D

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
9 papers
NM_006642.5
p.E378D
c.1134A>C
Surrounding Variants
9 papers
NM_006642.5
p.E378D
c.1134A>T
4 papers
NM_006642.5
p.R374*
c.1120C>T
1 paper
NM_006642.5
p.E373G
c.1118A>G
2 papers
NM_006642.5
p.A372G
c.1115C>G
1 paper
NM_006642.5
p.E389*
c.1165G>T
1 paper
NM_006642.5
p.R365_L368del0
c.1095_1103del9
1 paper
NM_006642.5
p.M392_M393delFs
c.1176_1179del4
1 paper
NM_006642.5
p.M393V
c.1177A>G
1 paper
NM_006642.5
p.K395delFs
c.1185delG
1 paper
NM_006642.5
p.E396A
c.1187A>C
1 paper
NM_006642.5
p.T398M
c.1193C>T
1 paper
NM_006642.5
p.S406L
c.1217C>T
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