Varaico: Literature-Extracted Genetic Variants

Gene:IAH1
Variant:p.R45Splc

IAH1

20 papers

Pfam Domains

Lipase_GDSLaa 18–212UCSCGDSL-like Lipase/Acylhydrolase

Gene Aliases

HGNC Name

isoamyl acetate hydrolyzing esterase 1 (putative)

HGNC Previous Name

isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039613.3
p.R45Splc
c.135-1020G>T
Surrounding Variants
1 paper
NM_001039613.3
p.D77fs
c.229_230fs
1 paper
NM_001039613.3
p.D77V
c.230A>T
1 paper
NM_001039613.3
p.I78fs
c.232_233fs
1 paper
NM_001039613.3
p.V80L
c.238G>C
1 paper
NM_001039613.3
p.N89S
c.266A>G
4 papers
NM_001039613.3
p.L43V
c.127C>G
1 paper
NM_001039613.3
p.L20F
c.58C>T
1 paper
NM_001039613.3
p.L18V
c.52T>G
1 paper
NM_001039613.3
p.L104R
c.311T>G
1 paper
NM_001039613.3
p.L118L
c.352C>T
1 paper
NM_001039613.3
p.D122G
c.365A>G
1 paper
NM_001039613.3
p.R127Q
c.380G>A
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