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.L38L

c.112C>T

Surrounding Variants

1 paper

NM_000636.4

p.L38V

c.112C>G

1 paper

NM_000636.4

p.L38Q

c.113T>A

2 papers

NM_000636.4

p.A37A

c.111C>T

2 papers

NM_000636.4

p.L38L

c.114G>A

1 paper

NM_000636.4

p.G36G

c.108C>T

1 paper

NM_000636.4

p.H41Y

c.121C>T

20 papers

NM_000636.4

p.D34D

c.102C>T

1 paper

NM_000636.4

p.D34E

c.102C>G

1 paper

NM_000636.4

p.D34E

c.102C>A

1 paper

NM_000636.4

p.D34N

c.100G>A

1 paper

NM_000636.4

p.N43H

c.127A>C

1 paper

NM_000636.4

p.N43S

c.128A>G