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

1 paper

NM_007103.4

p.R128L

c.383G>T

Surrounding Variants

2 papers

NM_007103.4

p.R128Q

c.383G>A

1 paper

NM_007103.4

p.R128delFs

c.383delG

11 papers

NM_007103.4

p.P122L

c.365C>T

NM_001166102.2

p.P113L

c.338C>T

1 paper

NM_007103.4

p.E121fs

c.361_362fs

2 papers

NM_007103.4

p.L138P

c.413T>C

5 papers

NM_007103.4

p.A117T

c.349G>A

1 paper

NM_007103.4

p.A117S

c.349G>T

2 papers

NM_007103.4

p.E140K

c.418G>A

1 paper

NM_007103.4

p.E140fs

c.418_419fs

1 paper

NM_007103.4

p.E140insFs

c.419_420ins14

1 paper

NM_007103.4

p.V115E

c.344T>A

1 paper

NM_007103.4

p.V115L

c.343G>C