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

1–12 of 79 variants

5 papers

NM_006844.5

p.A122T

c.364G>A

3 papers

NM_006844.5

p.Q41L

c.122A>T

3 papers

NM_006844.5

p.R183W

c.547C>T

2 papers

NM_006844.5

p.A60V

c.179C>T

2 papers

NM_006844.5

p.G116S

c.346G>A

2 papers

NM_006844.5

p.A122S

c.364G>T

2 papers

NM_006844.5

p.A192V

c.575C>T

2 papers

NM_006844.5

p.E392K

c.1174G>A

2 papers

NM_006844.5

p.D426E

c.1278C>G

2 papers

NM_006844.5

p.D426E

c.1278C>A

1 paper

NM_006844.5

p.A8D

c.23C>A

1 paper

NM_006844.5

p.G11E

c.32G>A