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

20 papers

NM_005006.7

p.D252G

c.755A>G

Surrounding Variants

2 papers

NM_005006.7

p.D252Y

c.754G>T

2 papers

NM_001199981.2

p.V217G

c.650T>G

NM_005006.7

p.V253G

c.758T>G

1 paper

NM_005006.7

p.V253A

c.758T>C

1 paper

NM_005006.7

p.M277I

c.831G>T

1 paper

NM_005006.7

p.M277I

c.831G>C

1 paper

NM_005006.7

p.M277I

c.831G>A

1 paper

NM_005006.7

p.D280N

c.838G>A

3 papers

NM_005006.7

p.N282S

c.845A>G

1 paper

NM_005006.7

p.D288G

c.863A>G

1 paper

NM_005006.7

p.R291Splc

c.872+3A>G

1 paper

NM_005006.7

p.R291Splc

c.873-2A>G

1 paper

NM_005006.7

p.L297L

c.889C>T