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

112 papers

NM_004453.4

p.A84T

c.250G>A

Surrounding Variants

5 papers

NM_004453.4

p.A84V

c.251C>T

1 paper

NM_004453.4

p.A83T

c.247G>A

6 papers

NM_004453.4

p.S82F

c.245C>T

4 papers

NM_004453.4

p.R86C

c.256C>T

10 papers

NM_004453.4

p.S82P

c.244T>C

1 paper

NM_004453.4

p.R86H

c.257G>A

9 papers

NM_004453.4

p.L81P

c.242T>C

4 papers

NM_004453.4

p.Q89delFs

c.265_266delCA

6 papers

NM_004453.4

p.A79G

c.236C>G

3 papers

NM_004453.4

p.Q89fs

c.265_266fs

1 paper

NM_004453.4

p.A79T

c.235G>A

1 paper

NM_004453.4

p.L90W

c.269T>G