Varaico: Literature-Extracted Genetic Variants

Gene:HACL1
Variant:p.I55delFs

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.I55delFs
c.164delA
Surrounding Variants
1 paper
NM_012260.4
p.G34G
c.102C>A
1 paper
NM_012260.4
p.Y31Y
c.93C>T
1 paper
NM_012260.4
p.Q27_D28Splc
c.82-1G>T
1 paper
NM_012260.4
p.K18E
c.52A>G
1 paper
NM_012260.4
p.N5K
c.15C>G
1 paper
NM_012260.4
p.N5K
c.15C>A
1 paper
NM_012260.4
p.S4R
c.12T>G
1 paper
NM_012260.4
p.S4R
c.12T>A
1 paper
NM_012260.4
p.S4R
c.10A>C
1 paper
NM_012260.4
p.D3G
c.8A>G
2 papers
NM_012260.4
p.M1insFs
c.2_3insC
1 paper
NM_012260.4
p.A62_A63Splc
c.187-2A>G
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