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.F125Y

c.374T>A

Surrounding Variants

1 paper

NM_000636.4

p.D124V

c.371A>T

2 papers

NM_000636.4

p.D124G

c.371A>G

1 paper

NM_000636.4

p.G126G

c.378T>A

2 papers

NM_000636.4

p.D124N

c.370G>A

1 paper

NM_000636.4

p.R123C

c.367C>T

2 papers

NM_000636.4

p.K122R

c.365A>G

2 papers

NM_000636.4

p.K122Q

c.364A>C

1 paper

NM_000636.4

p.A120A

c.360C>G

1 paper

NM_000636.4

p.K130Q

c.388A>C

1 paper

NM_000636.4

p.K130R

c.389A>G

1 paper

NM_000636.4

p.K130N

c.390G>T

1 paper

NM_000636.4

p.K130N

c.390G>C