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.R52S

c.156G>C

Surrounding Variants

1 paper

NM_007103.4

p.R52S

c.156G>T

4 papers

NM_007103.4

p.W51*

c.153G>A

4 papers

NM_007103.4

p.W51*

c.152G>A

1 paper

NM_007103.4

p.H49R

c.146A>G

1 paper

NM_007103.4

p.R48S

c.142C>A

1 paper

NM_007103.4

p.I41M

c.123T>G

2 papers

NM_007103.4

p.R40Q

c.119G>A

1 paper

NM_007103.4

p.R40G

c.118C>G

4 papers

NM_007103.4

p.R40W

c.118C>T

1 paper

NM_007103.4

p.L35V

c.103C>G

1 paper

NM_007103.4

p.S34L

c.101C>T

1 paper

NM_007103.4

p.S34P

c.100T>C