Varaico: Literature-Extracted Genetic Variants

AUH

44 papers

RefSeq Summary

This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methy...

Pfam Domains

ECH_1aa 84–339UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

AU RNA binding methylglutaconyl-CoA hydratase

HGNC Previous Names

AU RNA-binding protein/enoyl-Coenzyme A hydratase; AU RNA binding protein/enoyl-Coenzyme A hydratase; AU RNA binding protein/enoyl-CoA hydratase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001698.3

p.R226C

c.676C>T

Surrounding Variants

1 paper

NM_001698.3

p.A227T

c.679G>A

1 paper

NM_001698.3

p.R223Q

c.668G>A

1 paper

NM_001698.3

p.R223*

c.667C>T

1 paper

NM_001698.3

p.G219R

c.655G>C

1 paper

NM_001698.3

p.G219R

c.655G>A

6 papers

NM_001698.3

p.A240V

c.719C>T

1 paper

NM_001698.3

p.E277delFs

c.830_831delCT

1 paper

NM_001698.3

p.L279insFs

c.837dupA

1 paper

NM_001698.3

p.E298_V299Splc

c.894+1G>A

1 paper

NM_001698.3

p.E298_V299Splc

c.894+5G>A

1 paper

NM_001698.3

p.E298_V299Splc

c.895-3C>G

7 papers

NM_001698.3

p.E298_V299Splc

c.895-1G>A