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

1 paper

NM_001377299.1

p.S31insFs

c.92_93insGC

Surrounding Variants

1 paper

NM_001377299.1

p.S31ins2

c.92_93ins6

1 paper

NM_001377299.1

p.S31R

c.91A>C

1 paper

NM_001377299.1

p.S31R

c.93C>A

1 paper

NM_001377299.1

p.S31R

c.93C>G

1 paper

NM_001377299.1

p.P30_S31insFs

c.90_91insGA

1 paper

NM_001377299.1

p.P30_S31ins2

c.90_91ins6

1 paper

NM_001377299.1

p.P27S

c.79C>T

1 paper

NM_001377299.1

p.L26insFs

c.77_78insTG

1 paper

NM_001377299.1

p.L26ins2

c.77_78ins6

1 paper

NM_001377299.1

p.L26insFs

c.77_78ins8

1 paper

NM_001377299.1

p.R25Q

c.74G>A

1 paper

NM_001377299.1

p.V24L

c.70G>C