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.R88C

c.262C>T

Surrounding Variants

1 paper

NM_007103.4

p.R88S

c.262C>A

6 papers

NM_007103.4

p.R88G

c.262C>G

1 paper

NM_007103.4

p.G89*

c.265G>T

1 paper

NM_007103.4

p.G84S

c.250G>A

1 paper

NM_007103.4

p.G92_F93del1

c.276_278delCTT

1 paper

NM_007103.4

p.S83L

c.248C>T

1 paper

NM_007103.4

p.L97F

c.289C>T

1 paper

NM_007103.4

p.L97P

c.290T>C

1 paper

NM_007103.4

p.G78_E79del1

c.233_235delGCG

1 paper

NM_007103.4

p.W75delFs

c.225delG

1 paper

NM_007103.4

p.P73L

c.218C>T

2 papers

NM_007103.4

p.K104K

c.312G>A