Varaico: Literature-Extracted Genetic Variants

Gene:HACL1
Variant:p.G221delFs

HACL1

58 papers

Pfam Domains

TPP_enzyme_Naa 14–130UCSCThiamine pyrophosphate enzyme, N-terminal TPP binding domain
TPP_enzyme_Maa 203–332UCSCThiamine pyrophosphate enzyme, central domain
TPP_enzyme_Caa 397–557UCSCThiamine pyrophosphate enzyme, C-terminal TPP binding domain

Gene Aliases

HGNC Name

2-hydroxyacyl-CoA lyase 1

HGNC Previous Symbol

HPCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012260.4
p.G221delFs
c.663delC
Surrounding Variants
1 paper
NM_001284413.2
p.A171T
c.511G>A
1 paper
NM_012260.4
p.P193ins1
c.577_578insGCC
1 paper
NM_012260.4
p.V175L
c.523G>T
1 paper
NM_012260.4
p.G223fs
c.667_668fs
1 paper
NM_012260.4
p.G223V
c.668G>T
1 paper
NM_012260.4
p.H228insFs
c.683_684insG
1 paper
NM_012260.4
p.H228_A229insFs
c.684_685insG
1 paper
NM_001284416.2
p.V171I
c.511G>A
1 paper
NM_012260.4
p.V254F
c.760G>T
1 paper
NM_012260.4
p.A264T
c.790G>A
1 paper
NM_012260.4
p.I151F
c.451A>T
2 papers
NM_012260.4
p.R140H
c.419G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."