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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSD1

TPSD1

66 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 38–241UCSCTrypsin

Gene Aliases

HGNC Name

tryptase delta 1

HGNC Alias Names

mMCP-7-like II; mMCP-7-like I; MMCP-7-LIKE-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 60 variants

9 papers

chr16:1256816 G>A

NM_012217.3

p.A92T

c.274G>A

Trypsin

Exome: 7.0% (AC=61724, hom=12)Genome: 13.6% (AC=12338, hom=2)7 overlapping SVs

9 papers

chr16:1256970 A>G

NM_012217.3

p.H143R

c.428A>G

Trypsin

Exome: 32.7% (AC=357742, hom=10)Genome: 32.8% (AC=41798, hom=0)7 overlapping SVs

6 papers

chr16:1256525 A>T

NM_012217.3

p.Q31L

c.92A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

6 papers

chr16:1256558 AG>A

NM_012217.3

p.E43delFs

c.127delG

Trypsin

Exome: 21.0% (AC=307144, hom=34476)Genome: 26.3% (AC=40031, hom=5857)7 overlapping SVs

6 papers

chr16:1256972 A>G

NM_012217.3

p.I144V

c.430A>G

Trypsin

Exome: 32.4% (AC=348631, hom=10)Genome: 32.6% (AC=40954, hom=0)7 overlapping SVs

4 papers

chr16:1256345 C>G

NM_012217.3

p.P22R

c.65C>G

Exome: 18.9% (AC=192649, hom=939)Genome: 27.5% (AC=38937, hom=95)7 overlapping SVs

4 papers

chr16:1256641 C>T

NM_012217.3

p.L70F

c.208C>T

Trypsin

Exome: 16.9% (AC=246662, hom=19020)Genome: 12.9% (AC=19524, hom=624)7 overlapping SVs

4 papers

chr16:1256801 A>G

NM_012217.3

p.I87V

c.259A>G

Trypsin

Exome: 4.2% (AC=35716, hom=5)Genome: 7.7% (AC=7138, hom=0)7 overlapping SVs

4 papers

chr16:1256985 C>T

NM_012217.3

p.T148M

c.443C>T

Trypsin

Exome: 31.6% (AC=331859, hom=15)Genome: 30.4% (AC=35221, hom=0)7 overlapping SVs

4 papers

chr16:1257059 A>G

NM_012217.3

p.N173D

c.517A>G

Trypsin

Exome: 0.3% (AC=4297, hom=0)Genome: 0.0% (AC=8, hom=0)9 overlapping SVs

3 papers

chr16:1256522 G>T

NM_012217.3

p.G30V

c.89G>T

Exome: 0.0% (AC=410, hom=0)Genome: 0.0% (AC=36, hom=0)7 overlapping SVs

3 papers

chr16:1256557 C>CN

NM_012217.3

p.Q42fs

c.124_125fs

Trypsin

exact variant not in gnomAD7 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."