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

2 papers

NM_001377299.1

p.Y311C

c.932A>G

Surrounding Variants

4 papers

NM_001377299.1

p.Y308C

c.923A>G

1 paper

NM_001377299.1

p.V318I

c.952G>A

1 paper

NM_001377299.1

p.V318D

c.953T>A

1 paper

NM_001377299.1

p.W300*

c.900G>A

1 paper

NM_001377299.1

p.W300*

c.899G>A

1 paper

NM_001377299.1

p.W300R

c.898T>C

8 papers

NM_001377299.1

p.R323Q

c.968G>A

2 papers

NM_001377299.1

p.Y327C

c.980A>G

1 paper

NM_001377299.1

p.R294Q

c.881G>A

1 paper

NM_001377299.1

p.R294W

c.880C>T

28 papers

NM_001377299.1

p.M292T

c.875T>C

1 paper

NM_001377299.1

p.R329Splc

c.986+91C>T