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

7 papers

NM_001377299.1

p.R333Q

c.998G>A

Surrounding Variants

1 paper

NM_001377299.1

p.R333L

c.998G>T

1 paper

NM_001377299.1

p.E335V

c.1004A>T

1 paper

NM_001377299.1

p.A345T

c.1033G>A

12 papers

NM_001377299.1

p.P352A

c.1054C>G

1 paper

NM_001377299.1

p.P353H

c.1058C>A

3 papers

NM_001377299.1

p.R368*

c.1102C>T

1 paper

NM_001377299.1

p.R368Q

c.1103G>A

1 paper

NM_001377299.1

p.A369T

c.1105G>A

1 paper

NM_001377299.1

p.S374insFs

c.1122dupC

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