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.E309*

c.925G>T

Surrounding Variants

1 paper

NM_006844.5

p.R322Q

c.965G>A

1 paper

NM_006844.5

p.R327C

c.979C>T

1 paper

NM_006844.5

p.P298Q

c.893C>A

1 paper

NM_006844.5

p.R282W

c.844C>T

1 paper

NM_006844.5

p.R275H

c.824G>A

1 paper

NM_006844.5

p.Q274K

c.820C>A

1 paper

NM_006844.5

p.E258K

c.772G>A

1 paper

NM_006844.5

p.P257L

c.770C>T

1 paper

NM_006844.5

p.I371M

c.1113C>G

1 paper

NM_006844.5

p.N374D

c.1120A>G

1 paper

NM_006844.5

p.E379K

c.1135G>A

1 paper

NM_006844.5

p.F387S

c.1160T>C