Varaico: Literature-Extracted Genetic Variants

Gene:SOD2

SOD2

974 papers

RefSeq Summary

This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the...

Pfam Domains

Sod_Fe_Naa 25–87UCSCIron/manganese superoxide dismutases, alpha-hairpin domain
Sod_Fe_Naa 25–106UCSCIron/manganese superoxide dismutases, alpha-hairpin domain
Sod_Fe_Caa 113–216UCSCIron/manganese superoxide dismutases, C-terminal domain

Gene Aliases

HGNC Name

superoxide dismutase 2

HGNC Alias Symbols

GC1; IPOB; MnSOD; GClnc1; lncRNA-GC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
357 papers
NM_000636.4
p.V16A
c.47T>C
27 papers
NM_000636.4
p.P198L
c.593C>T
23 papers
NM_000636.4
p.L88L
c.262C>T
20 papers
NM_000636.4
p.D34D
c.102C>T
18 papers
NM_000636.4
p.L31L
c.93G>A
17 papers
NM_000636.4
p.G93A
c.278G>C
7 papers
NM_000636.4
p.E155K
c.463G>A
6 papers
NM_000636.4
p.I82T
c.245T>C
5 papers
NM_000636.4
p.S10I
c.29G>T
5 papers
NM_000636.4
p.D30V
c.89A>T
5 papers
NM_000636.4
p.H50H
c.150C>T
5 papers
NM_000636.4
p.G76R
c.226G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."