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.I244_Y245delFs

c.732_733delTT

Surrounding Variants

1 paper

NM_001377299.1

p.D243N

c.727G>A

1 paper

NM_001377299.1

p.Y245_S248del0

c.735_743del9

1 paper

NM_001377299.1

p.L240R

c.719T>G

1 paper

NM_001377299.1

p.K249R

c.746A>G

1 paper

NM_001377299.1

p.R254Q

c.761G>A

1 paper

NM_001377299.1

p.D256G

c.767A>G

2 papers

NM_001377299.1

p.Q234_D235Splc

c.703-11T>G

1 paper

NM_001377299.1

p.E257K

c.769G>A

1 paper

NM_001377299.1

p.Q234_D235Splc

c.703-24G>A

1 paper

NM_001377299.1

p.E260_L261Splc

c.781-33G>A

1 paper

NM_001377299.1

p.L261L

c.783G>A

1 paper

NM_001377299.1

p.W268*

c.803G>A