Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

2 papers

NM_000636.4

p.L84V

c.250C>G

Surrounding Variants

5 papers

NM_000636.4

p.L84F

c.250C>T

1 paper

NM_000636.4

p.L84insFs

c.250_251ins4

1 paper

NM_000636.4

p.A83A

c.249T>C

1 paper

NM_000636.4

p.I82R

c.245T>G

6 papers

NM_000636.4

p.I82T

c.245T>C

1 paper

NM_000636.4

p.A87T

c.259G>A

23 papers

NM_000636.4

p.L88L

c.262C>T

1 paper

NM_000636.4

p.V78I

c.232G>A

1 paper

NM_000636.4

p.F90S

c.269T>C

1 paper

NM_000636.4

p.G76A

c.227G>C

5 papers

NM_000636.4

p.G76R

c.226G>C

5 papers

NM_000636.4

p.G76R

c.226G>A