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

1 paper

NM_000636.4

p.Y19C

c.56A>G

Surrounding Variants

1 paper

NM_000636.4

p.L20L

c.58C>T

1 paper

NM_000636.4

p.L20R

c.59T>G

1 paper

NM_000636.4

p.L20P

c.59T>C

1 paper

NM_000636.4

p.G21A

c.62G>C

1 paper

NM_000636.4

p.V16G

c.47T>G

357 papers

NM_000636.4

p.V16A

c.47T>C

1 paper

NM_000636.4

p.R23T

c.68G>C

1 paper

NM_000636.4

p.R23K

c.68G>A

1 paper

NM_000636.4

p.R23S

c.69G>C

1 paper

NM_000636.4

p.Q24H

c.72G>T

1 paper

NM_000636.4

p.Q24H

c.72G>C

1 paper

NM_000636.4

p.K25Q

c.73A>C