Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.G317E

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
12 papers
NM_014362.4
p.G317E
c.950G>A
Surrounding Variants
5 papers
NM_014362.4
p.K320E
c.958A>G
2 papers
NM_014362.4
p.L326R
c.977T>G
13 papers
NM_014362.4
p.T305A
c.913A>G
1 paper
NM_014362.4
p.P304S
c.910C>T
1 paper
NM_014362.4
p.R331W
c.991C>T
2 papers
NM_014362.4
p.V298fs
c.892_893fs
1 paper
NM_014362.4
p.M337fs
c.1009_1010fs
1 paper
NM_014362.4
p.M337delFs
c.1010_1011delCA
1 paper
NM_014362.4
p.M337_R338Splc
c.1012-1G>A
10 papers
NM_014362.4
p.H343D
c.1027C>G
6 papers
NM_014362.4
p.G345S
c.1033G>A
2 papers
NM_014362.4
p.V346F
c.1036G>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."