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

2 papers

NM_000126.4

p.N118K

c.354C>A

Surrounding Variants

2 papers

NM_000126.4

p.N118K

c.354C>G

1 paper

NM_000126.4

p.L119fs

c.355_356fs

1 paper

NM_000126.4

p.L119insFs

c.355dupC

1 paper

NM_000126.4

p.L119fs

c.355_356fs

1 paper

NM_000126.4

p.P121P

c.363C>A

1 paper

NM_000126.4

p.K117_N118Splc

c.352-9T>C

5 papers

NM_000126.4

p.R122K

c.365G>A

1 paper

NM_000126.4

p.A124T

c.370G>A

6 papers

NM_000126.4

p.L127H

c.380T>A

1 paper

NM_000126.4

p.D134Y

c.400G>T

1 paper

NM_000126.4

p.D134G

c.401A>G

1 paper

NM_000126.4

p.A137T

c.409G>A