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.V245I

c.733G>A

Surrounding Variants

1 paper

NM_000126.4

p.A243_A244insFs

c.729_730insTT

1 paper

NM_000126.4

p.A243S

c.727G>T

3 papers

NM_000126.4

p.L241L

c.721C>T

2 papers

NM_000126.4

p.D239N

c.715G>A

1 paper

NM_000126.4

p.A238T

c.712G>A

1 paper

NM_000126.4

p.L234del1

c.700_701delTAA

1 paper

NM_000126.4

p.L234fs

c.700_701fs

1 paper

NM_000126.4

p.L233_L234del1

c.699_701delAAC

1 paper

NM_000126.4

p.N230Y

c.688A>T

1 paper

NM_000126.4

p.K226K

c.678G>A

5 papers

NM_000126.4

p.R223*

c.667C>T

1 paper

NM_000126.4

p.G222Splc

c.665-1G>A