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

4 papers

NM_001698.3

p.G88Splc

c.263-2A>G

Surrounding Variants

1 paper

NM_001698.3

p.G88R

c.262G>C

1 paper

NM_001698.3

p.G88R

c.262G>A

1 paper

NM_001698.3

p.I89N

c.266T>A

1 paper

NM_001698.3

p.G93A

c.278G>C

4 papers

NM_001698.3

p.M110_L111Splc

c.330+5G>A

3 papers

NM_001698.3

p.R125W

c.373C>T

2 papers

NM_001698.3

p.I127M

c.381A>G

1 paper

NM_001698.3

p.E132Q

c.394G>C

1 paper

NM_001698.3

p.I136M

c.408A>G

1 paper

NM_001698.3

p.G88Splc

c.262+1G>T

1 paper

NM_001698.3

p.G88R

c.262G>C

2 papers

NM_001698.3

p.R87delFs

c.260delC