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

1 paper

NM_004453.4

p.G399R

c.1195G>C

Surrounding Variants

1 paper

NM_004453.4

p.G399S

c.1195G>A

2 papers

NM_004453.4

p.K398R

c.1193A>G

2 papers

NM_004453.4

p.T400_H401delFs

c.1198_1201del4

1 paper

NM_004453.4

p.T400I

c.1199C>T

1 paper

NM_004453.4

p.H401fs

c.1201_1202fs

1 paper

NM_004453.4

p.H401R

c.1202A>G

1 paper

NM_004453.4

p.K396N

c.1188G>T

2 papers

NM_004453.4

p.T402A

c.1204A>G

3 papers

NM_004453.4

p.T402S

c.1204A>T

5 papers

NM_004453.4

p.T402I

c.1205C>T

2 papers

NM_004453.4

p.P395L

c.1184C>T

6 papers

NM_004453.4

p.A403V

c.1208C>T