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.M1T

c.2T>C

Surrounding Variants

2 papers

NM_001377299.1

p.M1I

c.3G>A

1 paper

NM_001377299.1

p.A2P

c.4G>C

1 paper

NM_001377299.1

p.A2V

c.5C>T

1 paper

NM_001377299.1

p.A6_G12delFs

c.18_36del19

1 paper

NM_001377299.1

p.R5M

c.14G>T

1 paper

NM_001377299.1

p.A6_A14delFs

c.17_42del26

1 paper

NM_001377299.1

p.A6D

c.17C>A

1 paper

NM_001377299.1

p.C8Y

c.23G>A

1 paper

NM_001377299.1

p.R11R

c.33G>T

1 paper

NM_001377299.1

p.Q16L

c.47A>T

15 papers

NM_001377299.1

p.P20T

c.58C>A

1 paper

NM_001377299.1

p.V24L

c.70G>C