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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSB2

Variant:p.C59*

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

Selected Variant

1 paper

chr16:1229622 G>T

NM_024164.6

p.C59*

c.177C>A

Trypsin

Exome: 0.0% (AC=2, hom=0)Genome: n/a7 overlapping SVs

Surrounding Variants

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

1 paper

chr16:1229573 C>A

NM_024164.6

p.V76L

c.226G>T

Trypsin

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

1 paper

chr16:1229573 C>G

NM_024164.6

p.V76L

c.226G>C

Trypsin

Exome: 40.1% (AC=481570, hom=78271)Genome: 46.4% (AC=55740, hom=14869)7 overlapping SVs

1 paper

chr16:1229698 C>T

NM_024164.6

p.G34D

c.101G>A

Trypsin

Exome: 0.0% (AC=7, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr16:1229709 G>A

NM_024164.6

p.G30G

c.90C>T

Exome: 25.0% (AC=257356, hom=717)Genome: 34.5% (AC=46878, hom=150)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

chr16:1229716 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

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

chr16:1229437 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

1 paper

chr16:1229398 G>A

NM_024164.6

p.Q98*

c.292C>T

Trypsin

Exome: 0.0% (AC=6, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr16:1229382 G>A

NM_024164.6

p.P103L

c.308C>T

Trypsin

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

1 paper

chr16:1229381 C>T

NM_024164.6

p.P103P

c.309G>A

Trypsin

Exome: 7.9% (AC=56533, hom=116)Genome: 6.5% (AC=3036, hom=54)7 overlapping SVs

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