Varaico: Literature-Extracted Genetic Variants

Gene:SMOX
Variant:p.I323S

SMOX

76 papers

RefSeq Summary

Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell c...

Pfam Domains

Amino_oxidaseaa 34–278UCSCFlavin containing amine oxidoreductase
Amino_oxidaseaa 304–544UCSCFlavin containing amine oxidoreductase

Gene Aliases

HGNC Name

spermine oxidase

HGNC Previous Symbol

C20orf16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175839.3
p.I323S
c.968T>G
Surrounding Variants
1 paper
NM_175839.3
p.P324A
c.970C>G
1 paper
NM_175839.3
p.C320S
c.959G>C
1 paper
NM_175839.3
p.D319A
c.956A>C
1 paper
NM_175839.3
p.V315A
c.944T>C
1 paper
NM_175839.3
p.D308V
c.923A>T
1 paper
NM_175839.3
p.R301insFs
c.902dupG
2 papers
NM_175839.3
p.R301fs
c.901_902fs
1 paper
NM_175839.3
p.V354L
c.1060G>C
1 paper
NM_175839.3
p.V354L
c.1060G>T
1 paper
NM_175839.3
p.E292K
c.874G>A
1 paper
NM_175839.3
p.A356T
c.1066G>A
1 paper
NM_175839.3
p.P280L
c.839C>T
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