Varaico: Literature-Extracted Genetic Variants

Gene:C4orf54
Variant:p.M821I

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.M821I
c.2463G>A
Surrounding Variants
1 paper
NM_001354435.2
p.M821I
c.2463G>T
1 paper
NM_001354435.2
p.M821I
c.2463G>C
1 paper
NM_001354435.2
p.K828Q
c.2482A>C
1 paper
NM_001354435.2
p.T844I
c.2531C>T
1 paper
NM_001354435.2
p.E920K
c.2758G>A
1 paper
NM_001354435.2
p.S712C
c.2135C>G
1 paper
NM_001354435.2
p.E953K
c.2857G>A
2 papers
NM_001354435.2
p.S1018A
c.3052T>G
2 papers
NM_001354435.2
p.G595R
c.1783G>C
2 papers
NM_001354435.2
p.G595R
c.1783G>A
1 paper
NM_001354435.2
p.V575M
c.1723G>A
1 paper
NM_001354435.2
p.R1077H
c.3230G>A
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