Varaico: Literature-Extracted Genetic Variants

Gene:PYROXD2
Variant:p.V498fs

PYROXD2

54 papers

Pfam Domains

NAD_binding_8aa 39–102UCSCNAD(P)-binding Rossmann-like domain
Amino_oxidaseaa 228–574UCSCFlavin containing amine oxidoreductase

Gene Aliases

HGNC Name

pyridine nucleotide-disulphide oxidoreductase domain 2

HGNC Previous Symbol

C10orf33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032709.3
p.V498fs
c.1492_1493fs
Surrounding Variants
3 papers
NM_032709.3
p.S497insFs
c.1490dupC
1 paper
NM_032709.3
p.V499G
c.1496T>G
1 paper
NM_032709.3
p.T505T
c.1515A>C
1 paper
NM_032709.3
p.G518_N519Splc
c.1554+645T>A
1 paper
NM_032709.3
p.D481N
c.1441G>A
1 paper
NM_032709.3
p.G518_N519Splc
c.1554+1045T>C
5 papers
NM_032709.3
p.M461T
c.1382T>C
1 paper
NM_032709.3
p.C437F
c.1310G>T
1 paper
NM_032709.3
p.N519N
c.1557C>T
1 paper
NM_032709.3
p.D528E
c.1584C>G
1 paper
NM_032709.3
p.D528E
c.1584C>A
1 paper
NM_032709.3
p.A533T
c.1597G>A
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