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.A393S

c.1177G>T

Surrounding Variants

2 papers

NM_006844.5

p.E392K

c.1174G>A

1 paper

NM_006844.5

p.V394M

c.1180G>A

1 paper

NM_006844.5

p.Q395R

c.1184A>G

1 paper

NM_006844.5

p.F387S

c.1160T>C

1 paper

NM_006844.5

p.E379K

c.1135G>A

1 paper

NM_006844.5

p.N374D

c.1120A>G

1 paper

NM_006844.5

p.I371M

c.1113C>G

1 paper

NM_006844.5

p.R327C

c.979C>T

1 paper

NM_006844.5

p.R322Q

c.965G>A

1 paper

NM_006844.5

p.F401V

c.1201T>G

1 paper

NM_006844.5

p.E309*

c.925G>T

1 paper

NM_006844.5

p.W418S

c.1253G>C