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

Selected Variant

2 papers

NM_007103.4

p.Y177fs

c.529_530fs

Surrounding Variants

3 papers

NM_007103.4

p.Y177insFs

c.529dupT

1 paper

NM_007103.4

p.K184delFs

c.552delG

1 paper

NM_007103.4

p.Q170_V171Splc

c.511-4G>A

1 paper

NM_007103.4

p.K184N

c.552G>C

1 paper

NM_007103.4

p.C187_G188Fs

c.559_564delinsTAGATFs

1 paper

NM_007103.4

p.G188V

c.563G>T

3 papers

NM_007103.4

p.S189P

c.565T>C

1 paper

NM_007103.4

p.R199C

c.595C>T

7 papers

NM_007103.4

p.R199P

c.596G>C

14 papers

NM_007103.4

p.Y204C

c.611A>G

1 paper

NM_007103.4

p.C206S

c.616T>A

13 papers

NM_007103.4

p.C206G

c.616T>G