Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.V128D

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
Selected Variant
7 papers
NM_014362.4
p.V128D
c.383T>A
Surrounding Variants
17 papers
NM_014362.4
p.Y122C
c.365A>G
1 paper
NM_014362.4
p.F118L
c.354C>G
1 paper
NM_014362.4
p.F118L
c.354C>A
5 papers
NM_014362.4
p.F118S
c.353T>C
1 paper
NM_014362.4
p.F118L
c.352T>C
2 papers
NM_014362.4
p.V102E
c.305T>A
1 paper
NM_014362.4
p.V102Splc
c.305-2A>T
1 paper
NM_014362.4
p.Q132*
c.394C>T
1 paper
NM_014362.4
p.Y135C
c.404A>G
11 papers
NM_014362.4
p.A137V
c.410C>T
1 paper
NM_014362.4
p.T143K
c.428C>A
1 paper
NM_014362.4
p.G146R
c.436G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."