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.P169S

c.505C>T

Surrounding Variants

1 paper

NM_000636.4

p.L170P

c.509T>C

1 paper

NM_000636.4

p.Q171*

c.511C>T

1 paper

NM_000636.4

p.N166S

c.497A>G

1 paper

NM_000636.4

p.G172E

c.515G>A

1 paper

NM_000636.4

p.T174I

c.521C>T

1 paper

NM_000636.4

p.A162V

c.485C>T

1 paper

NM_000636.4

p.I161M

c.483T>G

1 paper

NM_000636.4

p.I161T

c.482T>C

1 paper

NM_000636.4

p.G157R

c.469G>C

1 paper

NM_000636.4

p.G157R

c.469G>A

5 papers

NM_000636.4

p.R156W

c.466C>T

1 paper

NM_000636.4

p.E155D

c.465A>T