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

1–12 of 60 variants

10 papers

NM_001698.3

p.R197*

c.589C>T

7 papers

NM_001698.3

p.E298_V299Splc

c.895-1G>A

6 papers

NM_001698.3

p.S27delFs

c.80delC

6 papers

NM_001698.3

p.A240V

c.719C>T

5 papers

NM_001698.3

p.Q314_T315Splc

c.943-2A>G

4 papers

NM_001698.3

p.G60delFs

c.179delC

4 papers

NM_001698.3

p.G88Splc

c.263-2A>G

4 papers

NM_001698.3

p.M110_L111Splc

c.330+5G>A

4 papers

NM_001698.3

p.A169Splc

c.505+1G>C

4 papers

NM_001698.3

p.M205insFs

c.613dupA

3 papers

NM_001698.3

p.G60fs

c.178_179fs

3 papers

NM_001698.3

p.R125W

c.373C>T