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

1–12 of 630 variants

112 papers

NM_004453.4

p.A84T

c.250G>A

66 papers

NM_004453.4

p.Y257C

c.770A>G

60 papers

NM_004453.4

p.L28L

c.84A>T

49 papers

NM_004453.4

p.L409F

c.1227A>C

44 papers

NM_004453.4

p.R175H

c.524G>A

41 papers

NM_004453.4

p.L409F

c.1227A>T

31 papers

NM_004453.4

p.D130V

c.389A>T

30 papers

NM_004453.4

p.P483L

c.1448C>T

29 papers

NM_004453.4

p.P456L

c.1367C>T

27 papers

NM_004453.4

p.L377P

c.1130T>C

21 papers

NM_004453.4

p.D511N

c.1531G>A

19 papers

NM_004453.4

p.M404T

c.1211T>C