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

5 papers

NM_004453.4

p.G429Splc

c.1285+2T>C

Surrounding Variants

11 papers

NM_004453.4

p.G429Splc

c.1285+1G>A

6 papers

NM_004453.4

p.G429R

c.1285G>A

7 papers

NM_004453.4

p.G429R

c.1285G>C

1 paper

NM_004453.4

p.I428R

c.1283T>G

6 papers

NM_004453.4

p.I428fs

c.1282_1283fs

10 papers

NM_004453.4

p.T427_I428delFs

c.1281_1282delAA

1 paper

NM_004453.4

p.L418fs

c.1252_1253fs

1 paper

NM_004453.4

p.Q417*

c.1249C>T

4 papers

NM_004453.4

p.L418_T419delFs

c.1254_1257del4

1 paper

NM_004453.4

p.S413F

c.1238C>T

3 papers

NM_004453.4

p.I414_N416del0

c.1241_1246del6

1 paper

NM_004453.4

p.E412*

c.1234G>T