Varaico: Literature-Extracted Genetic Variants

Gene:AANAT
Variant:p.P166_E169del0

AANAT

69 papers

RefSeq Summary

The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vert...

Pfam Domains

Acetyltransf_1aa 45–173UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

aralkylamine N-acetyltransferase

HGNC Alias Symbol

SNAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001088.3
p.P166_E169del0
c.498_506del9
Surrounding Variants
1 paper
NM_001088.3
p.Y168D
c.502T>G
1 paper
NM_001088.3
p.Y168C
c.503A>G
2 papers
NM_001088.3
p.Y168F
c.503A>T
4 papers
NM_001088.3
p.A163V
c.488C>T
1 paper
NM_001088.3
p.S172I
c.515G>T
2 papers
NM_001088.3
p.A157V
c.470C>T
1 paper
NM_001088.3
p.A156A
c.468C>T
2 papers
NM_001088.3
p.G177D
c.530G>A
1 paper
NM_001088.3
p.V153V
c.459G>T
1 paper
NM_001088.3
p.I181S
c.542T>G
1 paper
NM_001088.3
p.L147P
c.440T>C
1 paper
NM_001088.3
p.Y143*
c.429C>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."