Varaico: Literature-Extracted Genetic Variants

MECR

82 papers

RefSeq Summary

The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy...

Pfam Domains

ADH_Naa 69–154UCSCAlcohol dehydrogenase GroES-like domain

ADH_zinc_Naa 195–331UCSCZinc-binding dehydrogenase

Gene Aliases

HGNC Name

mitochondrial trans-2-enoyl-CoA reductase

HGNC Alias Symbols

CGI-63; NRBF1; FASN2B; ETR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016011.5

p.A199A

c.597A>G

Surrounding Variants

1 paper

NM_016011.5

p.Q189*

c.565C>T

1 paper

NM_016011.5

p.V187A

c.560T>C

2 papers

NM_016011.5

p.D185delFs

c.553delC

1 paper

NM_016011.5

p.R216*

c.646C>T

1 paper

NM_016011.5

p.R218Splc

c.653+5G>A

1 paper

NM_016011.5

p.Q222*

c.664C>T

1 paper

NM_016011.5

p.D226insFs

c.676_677insG

1 paper

NM_016011.5

p.R227G

c.679A>G

2 papers

NM_016011.5

p.R227K

c.680G>A

1 paper

NM_016011.5

p.R227R

c.681A>G

1 paper

NM_016011.5

p.G232A

c.695G>C

10 papers

NM_016011.5

p.G232E

c.695G>A