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

5 papers

NM_001377299.1

p.E104A

c.311A>C

Surrounding Variants

2 papers

NM_001377299.1

p.E104G

c.311A>G

1 paper

NM_001377299.1

p.E104_M105insFs

c.312_313insAT

1 paper

NM_001377299.1

p.S102N

c.305G>A

1 paper

NM_001377299.1

p.R107W

c.319C>T

1 paper

NM_001377299.1

p.D110insFs

c.329_330insTG

1 paper

NM_001377299.1

p.D110ins2

c.329_330ins6

1 paper

NM_001377299.1

p.D110insFs

c.329_330ins8

2 papers

NM_001377299.1

p.D110V

c.329A>T

1 paper

NM_001377299.1

p.V98M

c.292G>A

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