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.Y695C

c.2084A>G

Surrounding Variants

1 paper

NM_005006.7

p.Y695D

c.2083T>G

2 papers

NM_005006.7

p.Y695H

c.2083T>C

1 paper

NM_005006.7

p.D693D

c.2079C>T

1 paper

NM_005006.7

p.K692delFs

c.2074delT

1 paper

NM_005006.7

p.Y656*

c.1968T>G

1 paper

NM_005006.7

p.Y656*

c.1968T>A

1 paper

NM_005006.7

p.P651S

c.1951C>T

1 paper

NM_005006.7

p.E647G

c.1940A>G

1 paper

NM_005006.7

p.T638insFs

c.1912_1913insA

1 paper

NM_005006.7

p.P635L

c.1904C>T

1 paper

NM_005006.7

p.A630P

c.1888G>C

1 paper

NM_005006.7

p.E628_I629Splc

c.1884+1G>C