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

14 papers

NM_005006.7

p.R557*

c.1669C>T

Surrounding Variants

1 paper

NM_005006.7

p.I537L

c.1609A>C

1 paper

NM_005006.7

p.V534M

c.1600G>A

1 paper

NM_005006.7

p.A524V

c.1571C>T

11 papers

NM_005006.7

p.Q522K

c.1564C>A

1 paper

NM_005006.7

p.A520T

c.1558G>A

5 papers

NM_005006.7

p.I519V

c.1555A>G

1 paper

NM_005006.7

p.R518Splc

c.1554-1G>A

1 paper

NM_005006.7

p.G576E

c.1727G>A

1 paper

NM_005006.7

p.I579fs

c.1735_1736fs

1 paper

NM_005006.7

p.I579insFs

c.1735dupA

1 paper

NM_005006.7

p.A580S

c.1738G>T

6 papers

NM_005006.7

p.T595A

c.1783A>G