Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.K73_K74Splc

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
8 papers
NM_014362.4
p.K73_K74Splc
c.220-9T>G
Surrounding Variants
1 paper
NM_014362.4
p.K73_K74Splc
c.220-11C>G
1 paper
NM_014362.4
p.K73_K74Splc
c.220-2A>T
7 papers
NM_014362.4
p.K74fs
c.220_221fs
2 papers
NM_014362.4
p.K74*
c.220A>T
1 paper
NM_014362.4
p.K74insFs
c.220_221ins10
1 paper
NM_014362.4
p.D78Y
c.232G>T
2 papers
NM_014362.4
p.P79fs
c.235_236fs
2 papers
NM_014362.4
p.P79delFs
c.236delG
9 papers
NM_014362.4
p.A96D
c.287C>A
1 paper
NM_014362.4
p.R101T
c.302G>C
7 papers
NM_014362.4
p.V102Splc
c.304+3A>G
4 papers
NM_014362.4
p.K73_K74insFs
c.219_220ins8
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