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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSAB1

TPSAB1

68 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 alpha/beta 1

HGNC Previous Symbols

TPSB1; TPS1; TPS2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 68 variants

9 papers

chr16:1241596 C>G

NM_003294.4

p.N132K

c.396C>G

Trypsin

Exome: 39.9% (AC=408019, hom=65736)Genome: 37.2% (AC=39718, hom=5304)9 overlapping SVs

8 papers

chr16:1241596 C>A

NM_003294.4

p.N132K

c.396C>A

Trypsin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=0, hom=0)9 overlapping SVs

6 papers

chr16:1241607 A>G

NM_003294.4

p.H136R

c.407A>G

Trypsin

Exome: 0.7% (AC=5019, hom=0)Genome: 3.4% (AC=2648, hom=0)9 overlapping SVs

6 papers

chr16:1241622 C>T

NM_003294.4

p.T141I

c.422C>T

Trypsin

Exome: 2.0% (AC=11544, hom=0)Genome: 5.3% (AC=3492, hom=0)9 overlapping SVs

5 papers

chr16:1241453 G>A

NM_003294.4

p.A85T

c.253G>A

Trypsin

Exome: 23.1% (AC=203717, hom=4)Genome: 17.6% (AC=17204, hom=0)9 overlapping SVs

4 papers

chr16:1241174 G>A

NM_003294.4

p.R28Q

c.83G>A

Exome: 30.9% (AC=329963, hom=429)Genome: 23.0% (AC=23044, hom=4)9 overlapping SVs

4 papers

chr16:1241307 A>G

NM_003294.4

p.A72A

c.216A>G

Trypsin

Exome: 14.3% (AC=112556, hom=4)Genome: 6.4% (AC=6089, hom=0)9 overlapping SVs

4 papers

chr16:1241317 G>C

NM_003294.4

p.V76L

c.226G>C

Trypsin

Exome: 19.0% (AC=152978, hom=4)Genome: 9.8% (AC=8936, hom=0)9 overlapping SVs

4 papers

chr16:1241317 G>T

NM_003294.4

p.V76L

c.226G>T

Trypsin

exact variant not in gnomAD9 overlapping SVs

4 papers

chr16:1241597 G>A

NM_003294.4

p.V133I

c.397G>A

Trypsin

Exome: 0.4% (AC=3395, hom=0)Genome: 2.2% (AC=1869, hom=0)9 overlapping SVs

4 papers

chr16:1241830 G>C

NM_003294.4

p.R168P

c.503G>C

Trypsin

Exome: 23.3% (AC=72675, hom=4)Genome: 22.0% (AC=2537, hom=4)9 overlapping SVs

3 papers

chr16:1241177 T>C

NM_003294.4

p.V29A

c.86T>C

Exome: 30.5% (AC=320485, hom=391)Genome: 22.5% (AC=22257, hom=5)9 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."