Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.L85F

SOD1

5,177 papers

RefSeq Summary

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic pro...

Pfam Domains

Sod_Cuaa 15–150UCSCCopper/zinc superoxide dismutase (SODC)

Gene Aliases

HGNC Name

superoxide dismutase 1

HGNC Previous Symbol

ALS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
42 papers
NM_000454.5
p.L85F
c.255G>C
Surrounding Variants
1 paper
NM_000454.5
p.L85L
c.255G>A
38 papers
NM_000454.5
p.L85F
c.255G>T
25 papers
NM_000454.5
p.G86S
c.256G>A
353 papers
NM_000454.5
p.G86R
c.256G>C
6 papers
NM_000454.5
p.G86C
c.256G>T
1 paper
NM_000454.5
p.L85_G86del1
c.255_257delGGG
3 papers
NM_000454.5
p.G86A
c.257G>C
2 papers
NM_000454.5
p.L85L
c.253T>C
23 papers
NM_000454.5
p.L85V
c.253T>G
1 paper
NM_000454.5
p.D84E
c.252C>A
1 paper
NM_000454.5
p.D84E
c.252C>G
1 paper
NM_000454.5
p.D84A
c.251A>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."