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.W476*

c.1427G>A

Surrounding Variants

1 paper

NM_004453.4

p.I477_L478ins4

c.1429_1433ins12

1 paper

NM_004453.4

p.Y475*

c.1425C>A

5 papers

NM_004453.4

p.R479T

c.1436G>C

11 papers

NM_004453.4

p.G472R

c.1414G>A

10 papers

NM_004453.4

p.G472R

c.1414G>C

1 paper

NM_004453.4

p.T471A

c.1411A>G

3 papers

NM_004453.4

p.E482V

c.1445A>T

1 paper

NM_004453.4

p.Y470D

c.1408T>G

2 papers

NM_004453.4

p.P483Q

c.1448C>A

30 papers

NM_004453.4

p.P483L

c.1448C>T

7 papers

NM_004453.4

p.W484R

c.1450T>A

11 papers

NM_004453.4

p.W484R

c.1450T>C