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.R59Q

c.176G>A

Surrounding Variants

24 papers

NM_007103.4

p.R59*

c.175C>T

6 papers

NM_007103.4

p.S56P

c.166T>C

1 paper

NM_007103.4

p.K64_T65insT

c.190_194ins3

3 papers

NM_007103.4

p.L53P

c.158T>C

1 paper

NM_007103.4

p.R52S

c.156G>T

1 paper

NM_007103.4

p.R52Splc

c.156-2A>G

1 paper

NM_007103.4

p.E67E

c.201G>A

1 paper

NM_007103.4

p.I68N

c.203T>A

1 paper

NM_007103.4

p.L70V

c.208C>G

1 paper

NM_007103.4

p.P73L

c.218C>T

1 paper

NM_007103.4

p.W75delFs

c.225delG

1 paper

NM_007103.4

p.G78_E79del1

c.233_235delGCG