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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSB2

TPSB2

40 papers

RefSeq Summary

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endo...

Pfam Domains

Trypsinaa 31–267UCSCTrypsin

Gene Aliases

HGNC Name

tryptase beta 2

HGNC Previous Name

tryptase beta 2 (gene/pseudogene)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 34 variants

6 papers

chr16:1229731 C>A

NM_024164.6

p.G23V

c.68G>T

Exome: 22.5% (AC=234565, hom=609)Genome: 32.8% (AC=42166, hom=57)7 overlapping SVs

3 papers

chr16:1229908 C>G

NM_024164.6

p.R15P

c.44G>C

Exome: 2.4% (AC=25797, hom=22)Genome: 9.1% (AC=9245, hom=36)7 overlapping SVs

3 papers

chr16:1229716 C>T

NM_024164.6

p.R28Q

c.83G>A

Exome: 21.7% (AC=223307, hom=585)Genome: 34.1% (AC=45676, hom=109)7 overlapping SVs

3 papers

chr16:1229713 A>G

NM_024164.6

p.V29A

c.86T>C

Exome: 22.7% (AC=229813, hom=645)Genome: 34.4% (AC=46361, hom=120)7 overlapping SVs

3 papers

chr16:1229437 C>T

NM_024164.6

p.A85T

c.253G>A

Trypsin

Exome: 32.5% (AC=329900, hom=3418)Genome: 30.9% (AC=18721, hom=1041)7 overlapping SVs

3 papers

chr16:1229237 C>CG

NM_024164.6

p.P151insFs

c.452dupC

Trypsin

Exome: 20.3% (AC=77199, hom=13511)Genome: 60.5% (AC=1729, hom=581)7 overlapping SVs

3 papers

chr16:1228950 C>T

NM_024164.6

p.V205I

c.613G>A

Trypsin

Exome: 33.7% (AC=124883, hom=3668)Genome: 21.5% (AC=1789, hom=157)7 overlapping SVs

2 papers

chr16:1229907 GC>CG

NM_024164.6

p.R15delins

c.44_45delinsCG

exact variant not in gnomAD7 overlapping SVs

2 papers

chr16:1229647 C>T

NM_024164.6

p.R51H

c.152G>A

Trypsin

Exome: 0.0% (AC=35, hom=1)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

2 papers

chr16:1229060 C>G

NM_024164.6

p.R168P

c.503G>C

Trypsin

Exome: 36.2% (AC=125907, hom=4535)Genome: 20.9% (AC=306, hom=21)7 overlapping SVs

2 papers

chr16:1228762 G>A

NM_024164.6

p.A239V

c.716C>T

Trypsin

Exome: 0.2% (AC=3244, hom=16)Genome: 0.1% (AC=193, hom=0)8 overlapping SVs

1 paper

chr16:1229944 T>C

NM_024164.6

p.N3S

c.8A>G

Exome: 8.6% (AC=90599, hom=420)Genome: 13.2% (AC=13259, hom=118)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."