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.E260_L261Splc

c.781-33G>A

Surrounding Variants

1 paper

NM_001377299.1

p.L261L

c.783G>A

1 paper

NM_001377299.1

p.W268*

c.803G>A

1 paper

NM_001377299.1

p.W268*

c.804G>A

1 paper

NM_001377299.1

p.R269*

c.805C>T

1 paper

NM_001377299.1

p.R271Q

c.812G>A

1 paper

NM_001377299.1

p.A280T

c.838G>A

1 paper

NM_001377299.1

p.A280V

c.839C>T

1 paper

NM_001377299.1

p.A280_E281del1

c.840_842delAGA

1 paper

NM_001377299.1

p.E281Q

c.841G>C

1 paper

NM_001377299.1

p.E257K

c.769G>A

1 paper

NM_001377299.1

p.D256G

c.767A>G

1 paper

NM_001377299.1

p.R254Q

c.761G>A