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

10 papers

NM_004453.4

p.L127R

c.380T>G

Surrounding Variants

12 papers

NM_004453.4

p.L127H

c.380T>A

3 papers

NM_004453.4

p.L127P

c.380T>C

6 papers

NM_004453.4

p.F128S

c.383T>C

1 paper

NM_004453.4

p.K125_E126ins3

c.375_376ins9

1 paper

NM_004453.4

p.E126_P129del4

c.376_386del12

31 papers

NM_004453.4

p.D130V

c.389A>T

8 papers

NM_004453.4

p.W131C

c.393G>C

6 papers

NM_004453.4

p.W131C

c.393G>T

3 papers

NM_004453.4

p.G122D

c.365G>A

1 paper

NM_004453.4

p.G122R

c.364G>C

2 papers

NM_004453.4

p.G122C

c.364G>T

2 papers

NM_004453.4

p.P121L

c.362C>T