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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGLYRP2

PGLYRP2

47 papers

RefSeq Summary

This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino ...

Pfam Domains

Amidase_2aa 401–533UCSCN-acetylmuramoyl-L-alanine amidase

Gene Aliases

HGNC Name

peptidoglycan recognition protein 2

HGNC Alias Symbols

PGRP-L; PGLYRPL; TAGL-like; tagL; tagL-alpha; tagl-beta; PGRPL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

4 papers

chr19:15475861 A>T

NM_052890.4

p.M270K

c.809T>A

Exome: 37.2% (AC=543487, hom=101948)Genome: 37.8% (AC=57378, hom=10949)11 overlapping SVs

2 papers

chr19:15476374 C>T

NM_052890.4

p.R99Q

c.296G>A

Exome: 37.8% (AC=552813, hom=105631)Genome: 37.1% (AC=56349, hom=10568)11 overlapping SVs

2 papers

chr19:15475574 C>T

NM_052890.4

p.A366T

c.1096G>A

Exome: 0.1% (AC=1551, hom=1)Genome: 0.1% (AC=186, hom=1)11 overlapping SVs

2 papers

chr19:15471963 G>A

NM_052890.4

p.R424C

c.1270C>T

Amidase_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr19:15469883 G>A

NM_052890.4

p.H464Y

c.1390C>T

Amidase_2

Exome: 0.9% (AC=12354, hom=197)Genome: 1.9% (AC=2895, hom=56)10 overlapping SVs

1 paper

chr19:15479339 T>C

NM_052890.4

p.G11G

c.33A>G

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:15476572 G>C

NM_052890.4

p.A33G

c.98C>G

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:15476534 T>C

NM_052890.4

p.T46A

c.136A>G

Exome: 37.8% (AC=552035, hom=105334)Genome: 37.0% (AC=56300, hom=10545)11 overlapping SVs

1 paper

chr19:15476530 C>T

NM_052890.4

p.R47K

c.140G>A

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:15476465 A>G

NM_052890.4

p.F69L

c.205T>C

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

1 paper

chr19:15476463 G>C

NM_052890.4

p.F69L

c.207C>G

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:15476463 G>T

NM_052890.4

p.F69L

c.207C>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 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."