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

6 papers

NM_004453.4

p.G116R

c.346G>A

Surrounding Variants

5 papers

NM_004453.4

p.G116R

c.346G>C

1 paper

NM_004453.4

p.G116E

c.347G>A

3 papers

NM_004453.4

p.A117P

c.349G>C

7 papers

NM_004453.4

p.C118F

c.353G>T

4 papers

NM_004453.4

p.T113I

c.338C>T

1 paper

NM_004453.4

p.S115delFs

c.343_344delTC

5 papers

NM_004453.4

p.H112Y

c.334C>T

1 paper

NM_004453.4

p.D120N

c.358G>A

2 papers

NM_004453.4

p.D120H

c.358G>C

4 papers

NM_004453.4

p.D120insFs

c.360dupT

4 papers

NM_004453.4

p.P121insFs

c.361_362insT

2 papers

NM_004453.4

p.P121fs

c.361_362fs