Varaico: Literature-Extracted Genetic Variants

Gene:AANAT
Variant:p.E190K

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.E190K
c.568G>A
Surrounding Variants
1 paper
NM_001088.3
p.G197D
c.590G>A
1 paper
NM_001088.3
p.I181S
c.542T>G
1 paper
NM_001088.3
p.F200F
c.600C>T
1 paper
NM_001088.3
p.R202H
c.605G>A
1 paper
NM_001088.3
p.R202R
c.606C>T
2 papers
NM_001088.3
p.G177D
c.530G>A
1 paper
NM_001088.3
p.G206S
c.616G>A
1 paper
NM_001088.3
p.S172I
c.515G>T
1 paper
NM_001088.3
p.Y168C
c.503A>G
2 papers
NM_001088.3
p.Y168F
c.503A>T
1 paper
NM_001088.3
p.Y168D
c.502T>G
1 paper
NM_001088.3
p.P166_E169del0
c.498_506del9
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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."