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

1–12 of 172 variants

28 papers

NM_001377299.1

p.M292T

c.875T>C

19 papers

NM_001377299.1

p.R228Q

c.683G>A

18 papers

NM_001377299.1

p.S413P

c.1237T>C

16 papers

NM_001377299.1

p.P229Q

c.686C>A

15 papers

NM_001377299.1

p.P20T

c.58C>A

12 papers

NM_001377299.1

p.P352A

c.1054C>G

8 papers

NM_001377299.1

p.R323Q

c.968G>A

7 papers

NM_001377299.1

p.R333Q

c.998G>A

6 papers

NM_001377299.1

p.R118Q

c.353G>A

6 papers

NM_001377299.1

p.D446N

c.1336G>A

5 papers

NM_001377299.1

p.Y53C

c.158A>G

5 papers

NM_001377299.1

p.E104A

c.311A>C