Varaico: Literature-Extracted Genetic Variants

NDUFS1

225 papers

RefSeq Summary

The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein ...

Pfam Domains

Fer2_4aa 29–107UCSC2Fe-2S iron-sulfur cluster binding domain

NADH-G_4Fe-4S_3aa 113–152UCSCNADH-ubiquinone oxidoreductase-G iron-sulfur binding region

Fer4_Nqo3aa 166–232UCSCNADH-quinone oxidoreductase subunit 3, ferredoxin-like domain

Fer4_NDSU1aa 245–295UCSCNADH-ubiquinone oxidoreductase NDSU1/NuoG-like, 4Fe-4S domain

Molybdopterinaa 301–629UCSCMolybdopterin oxidoreductase

NADH_dhqG_Caa 658–710UCSCNADH-ubiquinone oxidoreductase subunit G, C-terminal

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit S1

HGNC Alias Symbol

CI-75k

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005006.7

p.S187S

c.561T>C

Surrounding Variants

1 paper

NM_005006.7

p.E188E

c.564G>A

1 paper

NM_005006.7

p.R184T

c.551G>C

NM_001199984.2

p.R198T

c.593G>C

1 paper

NM_005006.7

p.V192A

c.575T>C

1 paper

NM_005006.7

p.L195S

c.584T>C

1 paper

NM_005006.7

p.T198del1

c.592_593delTGT

1 paper

NM_005006.7

p.G201A

c.602G>C

1 paper

NM_005006.7

p.G201E

c.602G>A

1 paper

NM_005006.7

p.Y209*

c.627C>G

1 paper

NM_005006.7

p.Y209*

c.627C>A

1 paper

NM_005006.7

p.K212Q

c.634A>C

12 papers

NM_005006.7

p.V228A

c.683T>C

5 papers

NM_005006.7

p.L231V

c.691C>G