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.Y53C

c.158A>G

Surrounding Variants

1 paper

NM_001377299.1

p.A44T

c.130G>A

1 paper

NM_001377299.1

p.W43*

c.129G>A

1 paper

NM_001377299.1

p.W43*

c.128G>A

1 paper

NM_001377299.1

p.P64S

c.190C>T

1 paper

NM_001377299.1

p.D40G

c.119A>G

1 paper

NM_001377299.1

p.D40V

c.119A>T

1 paper

NM_001377299.1

p.P39P

c.117A>T

1 paper

NM_001377299.1

p.Q36insFs

c.107dupA

1 paper

NM_001377299.1

p.R35W

c.103C>T

1 paper

NM_001377299.1

p.R32_G33ins2

c.96_97ins6

3 papers

NM_001377299.1

p.R32Splc

c.96-3C>T

1 paper

NM_001377299.1

p.R32Splc

c.95+55T>C