Varaico: Literature-Extracted Genetic Variants

ETFA

234 papers

RefSeq Summary

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron trans...

Pfam Domains

ETFaa 22–195UCSCElectron transfer flavoprotein domain

ETF_alphaaa 211–291UCSCElectron transfer flavoprotein FAD-binding domain

Gene Aliases

HGNC Name

electron transfer flavoprotein subunit alpha

HGNC Alias Symbols

GA2; EMA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000126.4

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_000126.4

p.M1R

c.2T>G

1 paper

NM_000126.4

p.M1I

c.3G>T

1 paper

NM_000126.4

p.M1I

c.3G>C

1 paper

NM_000126.4

p.M1I

c.3G>A

2 papers

NM_000126.4

p.M1V

c.1A>G

1 paper

NM_000126.4

p.F2insFs

c.5_6insT

1 paper

NM_000126.4

p.F2delFs

c.5delA

2 papers

NM_000126.4

p.R3*

c.7C>T

3 papers

NM_000126.4

p.Q9fs

c.25_26fs

5 papers

NM_000126.4

p.A4_G8insFs

c.12_22dup11

1 paper

NM_000126.4

p.A13A

c.39G>A

1 paper

NM_000126.4

p.A13_A14Splc

c.39+5G>T