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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AANAT

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 67 variants

5 papers

chr17:76469731 G>A

NM_001088.3

p.A129T

c.385G>A

Acetyltransf_1

Exome: 0.1% (AC=1072, hom=18)Genome: 0.1% (AC=143, hom=0)8 overlapping SVs

4 papers

chr17:76469834 C>T

NM_001088.3

p.A163V

c.488C>T

Acetyltransf_1

Exome: 0.4% (AC=5392, hom=21)Genome: 0.4% (AC=571, hom=2)8 overlapping SVs

3 papers

chr17:76469272 G>C

NM_001088.3

p.G88A

c.263G>C

Acetyltransf_1

Exome: 0.0% (AC=13, hom=1)Genome: 0.0% (AC=2, hom=0)8 overlapping SVs

2 papers

chr17:76468754 C>T

NM_001088.3

p.T3M

c.8C>T

Acetyltransf_1

Exome: 0.2% (AC=3432, hom=66)Genome: 1.6% (AC=2436, hom=65)8 overlapping SVs

2 papers

chr17:76468784 C>T

NM_001088.3

p.A13V

c.38C>T

Acetyltransf_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

2 papers

chr17:76468803 G>C

NM_001088.3

p.G19G

c.57G>C

Acetyltransf_1

exact variant not in gnomAD8 overlapping SVs

2 papers

chr17:76469193 G>A

NM_001088.3

p.V62I

c.184G>A

Acetyltransf_1

Exome: 0.0% (AC=233, hom=0)Genome: 0.0% (AC=15, hom=0)8 overlapping SVs

2 papers

chr17:76469299 C>T

NM_001088.3

p.S97L

c.290C>T

Acetyltransf_1

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=5, hom=0)8 overlapping SVs

2 papers

chr17:76469706 C>A

NM_001088.3

p.H120Q

c.360C>A

Acetyltransf_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a8 overlapping SVs

2 papers

chr17:76469706 C>G

NM_001088.3

p.H120Q

c.360C>G

Acetyltransf_1

exact variant not in gnomAD8 overlapping SVs

2 papers

chr17:76469712 T>A

NM_001088.3

p.H122Q

c.366T>A

Acetyltransf_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a8 overlapping SVs

2 papers

chr17:76469712 T>G

NM_001088.3

p.H122Q

c.366T>G

Acetyltransf_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a8 overlapping SVs

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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."