Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.K377*

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.K377*
c.1129A>T
Surrounding Variants
5 papers
NM_014362.4
p.F376_K377insFs
c.1128_1129insT
1 paper
NM_014362.4
p.F376V
c.1126T>G
1 paper
NM_014362.4
p.N373S
c.1118A>G
1 paper
NM_014362.4
p.W359*
c.1076G>A
1 paper
NM_014362.4
p.D354H
c.1060G>C
2 papers
NM_014362.4
p.V346F
c.1036G>T
6 papers
NM_014362.4
p.G345S
c.1033G>A
10 papers
NM_014362.4
p.H343D
c.1027C>G
1 paper
NM_014362.4
p.M337_R338Splc
c.1012-1G>A
1 paper
NM_014362.4
p.M337delFs
c.1010_1011delCA
1 paper
NM_014362.4
p.M337fs
c.1009_1010fs
1 paper
NM_014362.4
p.R331W
c.991C>T
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