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.L90W

c.269T>G

Surrounding Variants

1 paper

NM_004453.4

p.A91V

c.272C>T

3 papers

NM_004453.4

p.Q89fs

c.265_266fs

1 paper

NM_004453.4

p.V92L

c.274G>T

4 papers

NM_004453.4

p.Q89delFs

c.265_266delCA

1 paper

NM_004453.4

p.A93insFs

c.278dupC

1 paper

NM_004453.4

p.R86H

c.257G>A

4 papers

NM_004453.4

p.R86C

c.256C>T

1 paper

NM_004453.4

p.K96insFs

c.287dupA

1 paper

NM_004453.4

p.E95E

c.285A>G

1 paper

NM_004453.4

p.K96M

c.287A>T

5 papers

NM_004453.4

p.A84V

c.251C>T

112 papers

NM_004453.4

p.A84T

c.250G>A