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

10 papers

NM_001698.3

p.R197*

c.589C>T

Surrounding Variants

1 paper

NM_001698.3

p.V198I

c.592G>A

2 papers

NM_001698.3

p.G187S

c.559G>A

1 paper

NM_001698.3

p.M205fs

c.613_614fs

4 papers

NM_001698.3

p.M205insFs

c.613dupA

1 paper

NM_001698.3

p.M205fs

c.613_614fs

2 papers

NM_001698.3

p.L207R

c.620T>G

1 paper

NM_001698.3

p.E209A

c.626A>C

1 paper

NM_001698.3

p.L212_I215delFs

c.636_645del10

1 paper

NM_001698.3

p.G217D

c.650G>A

1 paper

NM_001698.3

p.G219R

c.655G>A

1 paper

NM_001698.3

p.G219Splc

c.655+3A>C