Varaico: Literature-Extracted Genetic Variants

NDUFV1

238 papers

RefSeq Summary

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (compl...

Pfam Domains

Complex1_51Kaa 80–252UCSCNuo51 FMN-binding domain

SLBB_2aa 274–363UCSCSLBB domain

NADH_4Fe-4Saa 365–449UCSCNADH-ubiquinone oxidoreductase-F iron-sulfur binding region

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit V1

HGNC Alias Symbol

CI-51K

Papers

RefSeq ID

Protein change

DNA change

1–12 of 169 variants

40 papers

NM_007103.4

p.T423M

c.1268C>T

32 papers

NM_007103.4

p.R386C

c.1156C>T

24 papers

NM_007103.4

p.R59*

c.175C>T

23 papers

NM_007103.4

p.E214K

c.640G>A

20 papers

NM_007103.4

p.R386H

c.1157G>A

18 papers

NM_007103.4

p.A341V

c.1022C>T

18 papers

NM_007103.4

p.G388Splc

c.1162+4A>C

14 papers

NM_007103.4

p.Y204C

c.611A>G

13 papers

NM_007103.4

p.C206G

c.616T>G

13 papers

NM_007103.4

p.A432P

c.1294G>C

10 papers

NM_007103.4

p.P122L

c.365C>T

9 papers

NM_007103.4

p.E377K

c.1129G>A