Varaico: Literature-Extracted Genetic Variants

Gene:AANAT
Variant:p.V126M

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.V126M
c.376G>A
Surrounding Variants
5 papers
NM_001088.3
p.A129T
c.385G>A
2 papers
NM_001088.3
p.H122Q
c.366T>A
1 paper
NM_001088.3
p.H122H
c.366T>C
2 papers
NM_001088.3
p.H122Q
c.366T>G
1 paper
NM_001088.3
p.L121Q
c.362T>A
2 papers
NM_001088.3
p.H120Q
c.360C>A
2 papers
NM_001088.3
p.H120Q
c.360C>G
1 paper
NM_001088.3
p.S114F
c.341C>T
1 paper
NM_001088.3
p.T110M
c.329C>T
1 paper
NM_001088.3
p.L109L
c.325C>T
1 paper
NM_001088.3
p.Y143*
c.429C>A
1 paper
NM_001088.3
p.Y143*
c.429C>G
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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."