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

4 papers

NM_004453.4

p.Y465insFs

c.1395dupT

Surrounding Variants

14 papers

NM_004453.4

p.Y465*

c.1395T>A

17 papers

NM_004453.4

p.Y465*

c.1395T>G

1 paper

NM_004453.4

p.Y465fs

c.1393_1394fs

11 papers

NM_004453.4

p.G467R

c.1399G>A

10 papers

NM_004453.4

p.G467R

c.1399G>C

1 paper

NM_004453.4

p.G463D

c.1388G>A

3 papers

NM_004453.4

p.G467A

c.1400G>C

2 papers

NM_004453.4

p.G463R

c.1387G>C

1 paper

NM_004453.4

p.Y470D

c.1408T>G

1 paper

NM_004453.4

p.G460fs

c.1378_1379fs

3 papers

NM_004453.4

p.G460*

c.1378G>T

1 paper

NM_004453.4

p.T471A

c.1411A>G