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.D426E

c.1278C>G

Surrounding Variants

2 papers

NM_006844.5

p.D426E

c.1278C>A

1 paper

NM_006844.5

p.W418S

c.1253G>C

1 paper

NM_006844.5

p.F401V

c.1201T>G

1 paper

NM_006844.5

p.E455*

c.1363G>T

1 paper

NM_006844.5

p.E455D

c.1365G>T

1 paper

NM_006844.5

p.P490L

c.1469C>T

1 paper

NM_006844.5

p.R510Q

c.1529G>A

1 paper

NM_006844.5

p.D512N

c.1534G>A

1 paper

NM_006844.5

p.D512E

c.1536T>G

1 paper

NM_006844.5

p.D512E

c.1536T>A

1 paper

NM_006844.5

p.W516*

c.1547G>A

1 paper

NM_006844.5

p.W516*

c.1548G>A