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

3 papers

NM_000636.4

p.W147*

c.441G>A

Surrounding Variants

1 paper

NM_000636.4

p.S145L

c.434C>T

1 paper

NM_000636.4

p.L150R

c.449T>G

2 papers

NM_000636.4

p.Q143H

c.429A>T

2 papers

NM_000636.4

p.Q143H

c.429A>C

1 paper

NM_000636.4

p.Q143*

c.427C>T

1 paper

NM_000636.4

p.Q143E

c.427C>G

1 paper

NM_000636.4

p.Q143K

c.427C>A

1 paper

NM_000636.4

p.V140V

c.420T>A

7 papers

NM_000636.4

p.E155K

c.463G>A

1 paper

NM_000636.4

p.V140L

c.418G>C

3 papers

NM_000636.4

p.E155G

c.464A>G

1 paper

NM_000636.4

p.E155A

c.464A>C