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.V237fs

c.709_710fs

Surrounding Variants

1 paper

NM_006844.5

p.R235*

c.703C>T

1 paper

NM_006844.5

p.E222D

c.666G>T

1 paper

NM_006844.5

p.E222D

c.666G>C

1 paper

NM_006844.5

p.P215L

c.644C>T

1 paper

NM_006844.5

p.D211N

c.631G>A

1 paper

NM_006844.5

p.F205Y

c.614T>A

1 paper

NM_006844.5

p.P203L

c.608C>T

2 papers

NM_006844.5

p.A192V

c.575C>T

1 paper

NM_006844.5

p.A191T

c.571G>A

1 paper

NM_006844.5

p.I185N

c.554T>A

3 papers

NM_006844.5

p.R183W

c.547C>T

1 paper

NM_006844.5

p.C176F

c.527G>T