Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.K43fs

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.K43fs
c.127_128fs
Surrounding Variants
3 papers
NM_014362.4
p.G44fs
c.130_131fs
5 papers
NM_014362.4
p.K43insFs
c.129dupA
1 paper
NM_014362.4
p.K43delFs
c.129delT
9 papers
NM_014362.4
p.T46A
c.136A>G
1 paper
NM_014362.4
p.V38G
c.113T>G
1 paper
NM_014362.4
p.D33H
c.97G>C
4 papers
NM_014362.4
p.N58S
c.173A>G
1 paper
NM_014362.4
p.R27fs
c.79_80fs
6 papers
NM_014362.4
p.L26_R27Splc
c.79-1G>T
13 papers
NM_014362.4
p.L26_R27Splc
c.79-3C>G
1 paper
NM_014362.4
p.N63N
c.189T>C
9 papers
NM_014362.4
p.R66W
c.196C>T
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."