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.S374insFs

c.1122dupC

Surrounding Variants

2 papers

NM_001377299.1

p.H380D

c.1138C>G

1 paper

NM_001377299.1

p.L384_E387del4

c.1150_1160del12

1 paper

NM_001377299.1

p.P393L

c.1178C>T

1 paper

NM_001377299.1

p.G394E

c.1181G>A

1 paper

NM_001377299.1

p.K404K

c.1212G>A

1 paper

NM_001377299.1

p.K404_G405Splc

c.1212+1G>T

1 paper

NM_001377299.1

p.F407C

c.1220T>G

1 paper

NM_001377299.1

p.V409L

c.1225G>C

1 paper

NM_001377299.1

p.V409L

c.1225G>T

1 paper

NM_001377299.1

p.V412L

c.1234G>C

1 paper

NM_001377299.1

p.V412L

c.1234G>T

18 papers

NM_001377299.1

p.S413P

c.1237T>C