Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH

HIBCH

106 papers

RefSeq Summary

This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. A...

Pfam Domains

ECH_2aa 46–376UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

3-hydroxyisobutyryl-CoA hydrolase

HGNC Previous Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
17 papers
NM_014362.4
p.Y122C
c.365A>G
13 papers
NM_014362.4
p.L26_R27Splc
c.79-3C>G
13 papers
NM_014362.4
p.T305A
c.913A>G
12 papers
NM_014362.4
p.G317E
c.950G>A
11 papers
NM_014362.4
p.A137V
c.410C>T
10 papers
NM_014362.4
p.C163F
c.488G>T
10 papers
NM_014362.4
p.H343D
c.1027C>G
9 papers
NM_014362.4
p.T46A
c.136A>G
9 papers
NM_014362.4
p.R66W
c.196C>T
9 papers
NM_014362.4
p.A96D
c.287C>A
9 papers
NM_014362.4
p.G173Splc
c.517+1G>A
8 papers
NM_014362.4
p.K73_K74Splc
c.220-9T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."