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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA3

PNPLA3

1,104 papers

RefSeq Summary

The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the bal...

Pfam Domains

Patatinaa 10–179UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase

HGNC Previous Symbols

C22orf20; ADPN

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 134 variants

987 papers

chr22:43928847 C>G

NM_025225.3

p.I148M

c.444C>G

Patatin

Exome: 23.3% (AC=338062, hom=43228)Genome: 22.8% (AC=34605, hom=4560)7 overlapping SVs

29 papers

chr22:43946294 G>T

NM_025225.3

p.S453I

c.1358G>T

Exome: 0.3% (AC=4202, hom=193)Genome: 2.9% (AC=4476, hom=207)6 overlapping SVs

28 papers

chr22:43924050 T>G

NM_025225.3

p.S47A

c.139T>G

Patatin

Exome: 0.0% (AC=85, hom=0)Genome: 0.0% (AC=8, hom=0)7 overlapping SVs

24 papers

chr22:43946273 C>T

NM_025225.3

p.P446L

c.1337C>T

Exome: 0.0% (AC=200, hom=0)Genome: 0.0% (AC=17, hom=0)6 overlapping SVs

18 papers

chr22:43946236 A>G

NM_025225.3

p.K434E

c.1300A>G

Exome: 62.2% (AC=908939, hom=286895)Genome: 69.8% (AC=106157, hom=38026)6 overlapping SVs

9 papers

chr22:43927023 G>T

NM_025225.3

p.K92N

c.276G>T

Patatin

exact variant not in gnomAD7 overlapping SVs

9 papers

chr22:43927090 G>T

NM_025225.3

p.G115C

c.343G>T

Patatin

Exome: 12.5% (AC=182933, hom=11874)Genome: 13.4% (AC=20462, hom=1445)7 overlapping SVs

7 papers

chr22:43924026 G>C

NM_025225.3

p.D39H

c.115G>C

Patatin

exact variant not in gnomAD7 overlapping SVs

6 papers

chr22:43928887 G>A

NM_025225.3

p.V162M

c.484G>A

Patatin

Exome: 0.2% (AC=2600, hom=13)Genome: 0.2% (AC=326, hom=1)7 overlapping SVs

4 papers

chr22:43937071 C>T

NM_025225.3

p.P260S

c.778C>T

exact variant not in gnomAD8 overlapping SVs

3 papers

chr22:43924010 C>G

NM_025225.3

p.A33A

c.99C>G

Patatin

exact variant not in gnomAD7 overlapping SVs

3 papers

chr22:43927042 T>G

NM_025225.3

p.C99G

c.295T>G

Patatin

Exome: 9.3% (AC=136260, hom=6945)Genome: 8.5% (AC=13007, hom=684)7 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."