Varaico: Literature-Extracted Genetic Variants

Gene:C8orf48

C8orf48

18 papers

Pfam Domains

DUF4606aa 166–268UCSCDomain of unknown function (DUF4606)

Gene Aliases

HGNC Name

chromosome 8 open reading frame 48

HGNC Alias Symbol

FLJ25402

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
3 papers
NM_001007090.3
p.T34S
c.100A>T
3 papers
NM_001007090.3
p.T34S
c.101C>G
2 papers
NM_001007090.3
p.S28F
c.83C>T
2 papers
NM_001007090.3
p.L122L
c.366G>C
2 papers
NM_001007090.3
p.L285M
c.853T>A
1 paper
NM_001007090.3
p.K12N
c.36A>C
1 paper
NM_001007090.3
p.K12N
c.36A>T
1 paper
NM_001007090.3
p.T22I
c.65C>T
1 paper
NM_001007090.3
p.S47A
c.139T>G
1 paper
NM_001007090.3
p.S47L
c.140C>T
1 paper
NM_001007090.3
p.L73R
c.218T>G
1 paper
NM_001007090.3
p.L83M
c.247T>A
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