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.L386F

c.1156C>T

Surrounding Variants

1 paper

NM_005006.7

p.L387F

c.1159C>T

1 paper

NM_005006.7

p.L387V

c.1159C>G

1 paper

NM_005006.7

p.N384S

c.1151A>G

1 paper

NM_005006.7

p.R382C

c.1144C>T

2 papers

NM_005006.7

p.E396K

c.1186G>A

1 paper

NM_005006.7

p.V400F

c.1198G>T

1 paper

NM_005006.7

p.T405A

c.1213A>G

7 papers

NM_005006.7

p.R408C

c.1222C>T

1 paper

NM_005006.7

p.R417R

c.1251A>G

1 paper

NM_005006.7

p.R419Q

c.1256G>A

1 paper

NM_005006.7

p.A377G

c.1130C>G

2 papers

NM_005006.7

p.T368P

c.1102A>C