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

6 papers

NM_001377299.1

p.R118Q

c.353G>A

Surrounding Variants

1 paper

NM_001377299.1

p.L116_H117ins2

c.348_349ins6

1 paper

NM_001377299.1

p.L115insFs

c.344_345insGC

1 paper

NM_001377299.1

p.L115ins2

c.344_345ins6

1 paper

NM_001377299.1

p.L115I

c.343C>A

1 paper

NM_001377299.1

p.G114_L115insFs

c.342_343insGA

1 paper

NM_001377299.1

p.G114_L115ins2

c.342_343ins6

1 paper

NM_001377299.1

p.G114R

c.340G>A

1 paper

NM_001377299.1

p.G114R

c.340G>C

1 paper

NM_001377299.1

p.G114W

c.340G>T

1 paper

NM_001377299.1

p.I124L

c.370A>C

1 paper

NM_001377299.1

p.D110insFs

c.329_330insTG

1 paper

NM_001377299.1

p.D110ins2

c.329_330ins6