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.A90T

c.268G>A

Surrounding Variants

4 papers

NM_001377299.1

p.F84L

c.252T>A

4 papers

NM_001377299.1

p.F84L

c.252T>G

4 papers

NM_001377299.1

p.F84L

c.250T>C

1 paper

NM_001377299.1

p.V98M

c.292G>A

1 paper

NM_001377299.1

p.S102N

c.305G>A

1 paper

NM_001377299.1

p.V77L

c.229G>C

1 paper

NM_001377299.1

p.I76T

c.227T>C

5 papers

NM_001377299.1

p.E104A

c.311A>C

2 papers

NM_001377299.1

p.E104G

c.311A>G

1 paper

NM_001377299.1

p.T75delFs

c.225delA

1 paper

NM_001377299.1

p.E104_M105insFs

c.312_313insAT

1 paper

NM_001377299.1

p.T75A

c.223A>G