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.E66D

c.198G>C

Surrounding Variants

1 paper

NM_000636.4

p.E66D

c.198G>T

4 papers

NM_000636.4

p.E66V

c.197A>T

1 paper

NM_000636.4

p.E67D

c.201G>T

4 papers

NM_000636.4

p.K68Q

c.202A>C

4 papers

NM_000636.4

p.K68R

c.203A>G

1 paper

NM_000636.4

p.V64I

c.190G>A

1 paper

NM_001322819.2

p.Q24L

c.71A>T

1 paper

NM_000636.4

p.A56_L62ins2

c.168_185dup18

1 paper

NM_001322817.2

p.L16P

c.47T>C

1 paper

NM_000636.4

p.A72V

c.215C>T

1 paper

NM_000636.4

p.K68_A72delFs

c.204_214del11

1 paper

NM_000636.4

p.N60N

c.180C>T