Varaico: Literature-Extracted Genetic Variants

Gene:C8orf48
Variant:p.L285M

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
Selected Variant
2 papers
NM_001007090.3
p.L285M
c.853T>A
Surrounding Variants
1 paper
NM_001007090.3
p.R278*
c.832A>T
1 paper
NM_001007090.3
p.I308M
c.924C>G
1 paper
NM_001007090.3
p.R253K
c.758G>A
1 paper
NM_001007090.3
p.H236R
c.707A>G
1 paper
NM_001007090.3
p.A189E
c.566C>A
1 paper
NM_001007090.3
p.D170N
c.508G>A
2 papers
NM_001007090.3
p.L122L
c.366G>C
1 paper
NM_001007090.3
p.T105N
c.314C>A
1 paper
NM_001007090.3
p.F98L
c.294T>A
1 paper
NM_001007090.3
p.F98L
c.294T>G
1 paper
NM_001007090.3
p.F98L
c.292T>C
1 paper
NM_001007090.3
p.L83M
c.247T>A
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