Varaico: Literature-Extracted Genetic Variants

HACL2

80 papers

RefSeq Summary

The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacter...

Pfam Domains

TPP_enzyme_Naa 52–168UCSCThiamine pyrophosphate enzyme, N-terminal TPP binding domain

TPP_enzyme_Maa 273–405UCSCThiamine pyrophosphate enzyme, central domain

TPP_enzyme_Caa 467–618UCSCThiamine pyrophosphate enzyme, C-terminal TPP binding domain

Gene Aliases

HGNC Name

2-hydroxyacyl-CoA lyase 2

HGNC Previous Symbol

ILVBL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006844.5

p.L126F

c.376C>T

Surrounding Variants

2 papers

NM_006844.5

p.A122S

c.364G>T

5 papers

NM_006844.5

p.A122T

c.364G>A

1 paper

NM_006844.5

p.G116A

c.347G>C

2 papers

NM_006844.5

p.G116S

c.346G>A

1 paper

NM_006844.5

p.R110H

c.329G>A

1 paper

NM_006844.5

p.S167A

c.499T>G

1 paper

NM_006844.5

p.S167F

c.500C>T

1 paper

NM_006844.5

p.P171S

c.511C>T

1 paper

NM_006844.5

p.P171A

c.511C>G

1 paper

NM_006844.5

p.C176F

c.527G>T

1 paper

NM_006844.5

p.L88R

c.263T>G

3 papers

NM_006844.5

p.R183W

c.547C>T