Varaico: Literature-Extracted Genetic Variants

NDUFS2

196 papers

RefSeq Summary

The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 differen...

Pfam Domains

Complex1_49kDaaa 193–236UCSCRespiratory-chain NADH dehydrogenase, 49 Kd subunit

Complex1_49kDaaa 193–463UCSCRespiratory-chain NADH dehydrogenase, 49 Kd subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit S2

HGNC Alias Symbol

CI-49

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

19 papers

NM_001377299.1

p.R228Q

c.683G>A

Surrounding Variants

1 paper

NM_001377299.1

p.R228L

c.683G>T

16 papers

NM_001377299.1

p.P229Q

c.686C>A

4 papers

NM_001377299.1

p.A224V

c.671C>T

1 paper

NM_001377299.1

p.Q234R

c.701A>G

1 paper

NM_001377299.1

p.Q234H

c.702G>C

1 paper

NM_001377299.1

p.Q234H

c.702G>T

2 papers

NM_001377299.1

p.R221Q

c.662G>A

3 papers

NM_001377299.1

p.R221*

c.661C>T

1 paper

NM_001377299.1

p.E212insFs

c.635_636insGC

1 paper

NM_001377299.1

p.Q234_D235Splc

c.703-24G>A

2 papers

NM_001377299.1

p.Q234_D235Splc

c.703-11T>G

1 paper

NM_001377299.1

p.L240R

c.719T>G