Varaico: Literature-Extracted Genetic Variants

Gene:C2orf78
Variant:p.R500S

C2orf78

55 papers

Pfam Domains

DUF4629aa 495–644UCSCDomain of unknown function (DUF4629)

Gene Aliases

HGNC Name

chromosome 2 open reading frame 78

HGNC Alias Symbols

FLJ43987; hCG1989538; COG5373

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080474.3
p.R500S
c.1500G>C
Surrounding Variants
1 paper
NM_001080474.3
p.R500S
c.1500G>T
1 paper
NM_001080474.3
p.S507Y
c.1520C>A
1 paper
NM_001080474.3
p.S535G
c.1603A>G
1 paper
NM_001080474.3
p.D464G
c.1391A>G
3 papers
NM_001080474.3
p.P455L
c.1364C>T
1 paper
NM_001080474.3
p.I444N
c.1331T>A
1 paper
NM_001080474.3
p.Q428H
c.1284A>C
1 paper
NM_001080474.3
p.Q428H
c.1284A>T
1 paper
NM_001080474.3
p.E426K
c.1276G>A
1 paper
NM_001080474.3
p.G575E
c.1724G>A
1 paper
NM_001080474.3
p.A416D
c.1247C>A
1 paper
NM_001080474.3
p.G591E
c.1772G>A
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