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

5 papers

NM_001698.3

p.Q314_T315Splc

c.943-2A>G

Surrounding Variants

2 papers

NM_001698.3

p.K331*

c.991A>T

1 paper

NM_001698.3

p.R332_R335del0

c.996_1004del9

1 paper

NM_001698.3

p.Q314_T315Splc

c.942+3A>G

1 paper

NM_001698.3

p.E309E

c.927A>G

1 paper

NM_001698.3

p.A306A

c.918C>T

7 papers

NM_001698.3

p.E298_V299Splc

c.895-1G>A

1 paper

NM_001698.3

p.E298_V299Splc

c.895-3C>G

1 paper

NM_001698.3

p.E298_V299Splc

c.894+5G>A

1 paper

NM_001698.3

p.E298_V299Splc

c.894+1G>A

1 paper

NM_001698.3

p.L279insFs

c.837dupA

1 paper

NM_001698.3

p.E277delFs

c.830_831delCT

6 papers

NM_001698.3

p.A240V

c.719C>T