Varaico: Literature-Extracted Genetic Variants

Gene:AADAC
Variant:p.V172I

AADAC

64 papers

RefSeq Summary

Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyc...

Pfam Domains

Abhydrolase_3aa 107–278UCSCalpha/beta hydrolase fold
Abhydrolase_3aa 302–377UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

arylacetamide deacetylase

HGNC Alias Symbols

DAC; CES5A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001086.3
p.V172I
c.514G>A
Surrounding Variants
1 paper
NM_001086.3
p.P180S
c.538C>T
1 paper
NM_001086.3
p.D159G
c.476A>G
1 paper
NM_001086.3
p.P149S
c.445C>T
1 paper
NM_001086.3
p.Y145S
c.434A>C
1 paper
NM_001086.3
p.P206Q
c.617C>A
1 paper
NM_001086.3
p.S231A
c.691T>G
1 paper
NM_001086.3
p.L241fs
c.721_722fs
3 papers
NM_001086.3
p.R248S
c.744A>C
3 papers
NM_001086.3
p.R248S
c.744A>T
1 paper
NM_001086.3
p.E252K
c.754G>A
1 paper
NM_001086.3
p.F254L
c.760T>C
1 paper
NM_001086.3
p.F254L
c.762T>A
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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."