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.G306fs

c.916_917fs

Surrounding Variants

2 papers

NM_007103.4

p.G305fs

c.913_914fs

1 paper

NM_007103.4

p.N313S

c.938A>G

1 paper

NM_007103.4

p.V317L

c.949G>C

1 paper

NM_007103.4

p.V317L

c.949G>T

1 paper

NM_007103.4

p.I318N

c.953T>A

1 paper

NM_007103.4

p.S330_V331delFs

c.990_991delTG

1 paper

NM_007103.4

p.E333D

c.999G>C

1 paper

NM_007103.4

p.E333D

c.999G>T

1 paper

NM_007103.4

p.M337V

c.1009A>G

1 paper

NM_007103.4

p.D340N

c.1018G>A

18 papers

NM_007103.4

p.A341V

c.1022C>T

2 papers

NM_007103.4

p.Q344*

c.1030C>T