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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSD1

Variant:p.I87V

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

Selected Variant

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

Surrounding 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

1 paper

chr16:1256824 G>C

NM_012217.3

p.R94S

c.282G>C

Trypsin

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=29, hom=0)7 overlapping SVs

1 paper

chr16:1256824 G>T

NM_012217.3

p.R94S

c.282G>T

Trypsin

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

1 paper

chr16:1256855 C>T

NM_012217.3

p.Q105*

c.313C>T

Trypsin

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

1 paper

chr16:1256872 G>A

NM_012217.3

p.P110P

c.330G>A

Trypsin

Exome: 6.6% (AC=77823, hom=2)Genome: 8.4% (AC=11520, hom=0)7 overlapping SVs

1 paper

chr16:1256892 A>G

NM_012217.3

p.H117R

c.350A>G

Trypsin

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:1256687 C>G

NM_012217.3

p.P85R

c.254C>G

Trypsin

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:1256917 C>T

NM_012217.3

p.T125T

c.375C>T

Trypsin

Exome: 35.0% (AC=438788, hom=18)Genome: 34.8% (AC=49308, hom=2)7 overlapping SVs

1 paper

chr16:1256684 A>G

NM_012217.3

p.E84G

c.251A>G

Trypsin

Exome: 1.0% (AC=11202, hom=0)Genome: 6.7% (AC=5802, hom=0)7 overlapping SVs

1 paper

chr16:1256920 G>A

NM_012217.3

p.G126G

c.378G>A

Trypsin

Exome: 34.9% (AC=433593, hom=20)Genome: 34.7% (AC=49235, hom=0)7 overlapping SVs

2 papers

chr16:1256922 C>T

NM_012217.3

p.A127V

c.380C>T

Trypsin

Exome: 0.6% (AC=8101, hom=0)Genome: 0.8% (AC=1225, hom=0)7 overlapping SVs

1 paper

chr16:1256680 G>A

NM_012217.3

p.V83M

c.247G>A

Trypsin

Exome: 30.1% (AC=434072, hom=41970)Genome: 29.0% (AC=42668, hom=1342)7 overlapping SVs

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