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.T171R

c.512C>G

Surrounding Variants

14 papers

NM_000126.4

p.T171I

c.512C>T

1 paper

NM_000126.4

p.T171A

c.511A>G

2 papers

NM_000126.4

p.F173C

c.518T>G

3 papers

NM_000126.4

p.R169H

c.506G>A

1 paper

NM_000126.4

p.R169C

c.505C>T

3 papers

NM_000126.4

p.V168F

c.502G>T

1 paper

NM_000126.4

p.V168I

c.502G>A

1 paper

NM_000126.4

p.V165_F166delFs

c.495_496delAC

1 paper

NM_000126.4

p.K162_V165del4

c.484_494del12

4 papers

NM_000126.4

p.V165A

c.494T>C

1 paper

NM_000126.4

p.K162_V165del0

c.485_493del9

1 paper

NM_000126.4

p.T178R

c.533C>G