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

2 papers

NM_004453.4

p.G59Splc

c.176-1G>T

Surrounding Variants

4 papers

NM_004453.4

p.G59Splc

c.176-1G>A

1 paper

NM_004453.4

p.G59Splc

c.176-2A>T

1 paper

NM_004453.4

p.G59Fs

c.176delinsAAFs

1 paper

NM_004453.4

p.G59_V60insFs

c.177_178insT

1 paper

NM_004453.4

p.G59_V60insFs

c.177_178insTC

1 paper

NM_004453.4

p.E63D

c.189A>T

3 papers

NM_004453.4

p.R64K

c.191G>A

1 paper

NM_004453.4

p.E68A

c.203A>C

1 paper

NM_004453.4

p.A69S

c.205G>T

1 paper

NM_004453.4

p.A69G

c.206C>G

5 papers

NM_004453.4

p.V71del1

c.211_212delGTT

2 papers

NM_004453.4

p.V72del1

c.214_215delGTA