Varaico: Literature-Extracted Genetic Variants

ETFDH

453 papers

RefSeq Summary

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respira...

Pfam Domains

NAD_binding_8aa 12–63UCSCNAD(P)-binding Rossmann-like domain

Thi4aa 58–121UCSCThi4 family

ETFQO_UQ-bdaa 271–366UCSCETF-QO, ubiquinone-binding

Fer4_ETF_QOaa 512–615UCSCElectron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S

Gene Aliases

HGNC Name

electron transfer flavoprotein dehydrogenase

HGNC Alias Symbol

ETFQO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004453.4

p.R175P

c.524G>C

Surrounding Variants

44 papers

NM_004453.4

p.R175H

c.524G>A

18 papers

NM_004453.4

p.R175L

c.524G>T

3 papers

NM_004453.4

p.R175C

c.523C>T

2 papers

NM_004453.4

p.V174A

c.521T>C

2 papers

NM_004453.4

p.V174I

c.520G>A

5 papers

NM_004453.4

p.L176F

c.528G>C

3 papers

NM_004453.4

p.L176F

c.528G>T

2 papers

NM_004453.4

p.I173M

c.519T>G

2 papers

NM_004453.4

p.I173S

c.518T>G

1 paper

NM_004453.4

p.L179S

c.536T>C

5 papers

NM_004453.4

p.N171D

c.511A>G

1 paper

NM_004453.4

p.G170A

c.509G>C