Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.H153Q

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
1 paper
NM_014362.4
p.H153Q
c.459T>A
Surrounding Variants
1 paper
NM_014362.4
p.H153Q
c.459T>G
2 papers
NM_014362.4
p.H153Y
c.457C>T
7 papers
NM_014362.4
p.S151L
c.452C>T
3 papers
NM_014362.4
p.R157*
c.469C>T
1 paper
NM_014362.4
p.R157Q
c.470G>A
1 paper
NM_014362.4
p.G147V
c.440G>T
7 papers
NM_014362.4
p.G146_G147Splc
c.439-2A>G
1 paper
NM_014362.4
p.C163S
c.487T>A
10 papers
NM_014362.4
p.C163F
c.488G>T
1 paper
NM_014362.4
p.C163S
c.488G>C
1 paper
NM_014362.4
p.C163Y
c.488G>A
1 paper
NM_014362.4
p.P168A
c.502C>G
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."