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

5 papers

NM_005006.7

p.R22*

c.64C>T

Surrounding Variants

1 paper

NM_005006.7

p.R22Q

c.65G>A

1 paper

NM_005006.7

p.V21Splc

c.62-6G>A

1 paper

NM_005006.7

p.A25D

c.74C>A

1 paper

NM_005006.7

p.S29S

c.87C>T

3 papers

NM_005006.7

p.G38G

c.114T>A

1 paper

NM_005006.7

p.Q39*

c.115C>T

1 paper

NM_005006.7

p.V43E

c.128T>A

1 paper

NM_005006.7

p.V21Splc

c.62-66C>A

1 paper

NM_005006.7

p.V49F

c.145G>T

1 paper

NM_005006.7

p.V49L

c.145G>C

1 paper

NM_005006.7

p.K18I

c.53A>T

1 paper

NM_005006.7

p.P17S

c.49C>T