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

2 papers

NM_006844.5

p.A60V

c.179C>T

Surrounding Variants

1 paper

NM_006844.5

p.L62L

c.186G>A

1 paper

NM_006844.5

p.V58M

c.172G>A

1 paper

NM_006844.5

p.A64A

c.192C>T

1 paper

NM_006844.5

p.R52Q

c.155G>A

1 paper

NM_006844.5

p.V51D

c.152T>A

1 paper

NM_006844.5

p.P80fs

c.238_239fs

1 paper

NM_006844.5

p.P80R

c.239C>G

1 paper

NM_006844.5

p.A84T

c.250G>A

1 paper

NM_006844.5

p.L88R

c.263T>G

1 paper

NM_006844.5

p.R110H

c.329G>A

2 papers

NM_006844.5

p.G116S

c.346G>A

1 paper

NM_006844.5

p.G116A

c.347G>C