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.K194E

c.580A>G

Surrounding Variants

1 paper

NM_000636.4

p.Y193Y

c.579T>C

1 paper

NM_000636.4

p.K194R

c.581A>G

1 paper

NM_000636.4

p.Y193S

c.578A>C

1 paper

NM_000636.4

p.Q192Q

c.576G>A

1 paper

NM_000636.4

p.N195K

c.585T>G

1 paper

NM_000636.4

p.N195K

c.585T>A

1 paper

NM_000636.4

p.Q192R

c.575A>G

1 paper

NM_000636.4

p.V196V

c.588C>A

1 paper

NM_000636.4

p.R197W

c.589A>T

2 papers

NM_000636.4

p.R197K

c.590G>A

1 paper

NM_000636.4

p.P198T

c.592C>A

27 papers

NM_000636.4

p.P198L

c.593C>T