Varaico: Literature-Extracted Genetic Variants

Gene:C4orf54
Variant:p.S225C

C4orf54

24 papers

Pfam Domains

DUF4585aa 1604–1673UCSCDomain of unknown function (DUF4585)

Gene Aliases

HGNC Name

chromosome 4 open reading frame 54

HGNC Alias Symbols

FOPV; LOC285556

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354435.2
p.S225C
c.674C>G
Surrounding Variants
1 paper
NM_001354435.2
p.Q233L
c.698A>T
1 paper
NM_001354435.2
p.S242delFs
c.726delG
1 paper
NM_001354435.2
p.E306*
c.916G>T
1 paper
NM_001354435.2
p.Q354*
c.1060C>T
1 paper
NM_001354435.2
p.R357S
c.1071G>T
1 paper
NM_001354435.2
p.R357S
c.1071G>C
2 papers
NM_001354435.2
p.H371Q
c.1113T>G
2 papers
NM_001354435.2
p.H371Q
c.1113T>A
1 paper
NM_001354435.2
p.L74L
c.222C>T
1 paper
NM_001354435.2
p.F384F
c.1152C>T
1 paper
NM_001354435.2
p.Y44H
c.130T>C
1 paper
NM_001354435.2
p.R31Q
c.92G>A
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