Varaico: Literature-Extracted Genetic Variants

Gene:HACL1
Variant:p.R140H

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
2 papers
NM_012260.4
p.R140H
c.419G>A
Surrounding Variants
1 paper
NM_012260.4
p.F137F
c.411C>T
1 paper
NM_012260.4
p.R132I
c.395G>T
1 paper
NM_012260.4
p.A130T
c.388G>A
1 paper
NM_012260.4
p.I151F
c.451A>T
1 paper
NM_012260.4
p.Q127_V128Splc
c.382-51G>A
1 paper
NM_012260.4
p.V175L
c.523G>T
1 paper
NM_012260.4
p.G120*
c.358G>T
1 paper
NM_012260.4
p.Q116*
c.346C>T
1 paper
NM_012260.4
p.P193ins1
c.577_578insGCC
1 paper
NM_001284413.2
p.A171T
c.511G>A
1 paper
NM_012260.4
p.G221delFs
c.663delC
1 paper
NM_012260.4
p.N97S
c.290A>G
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