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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMPRSS2

TMPRSS2

393 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domai...

Pfam Domains

SRCR_2aa 153–248UCSCScavenger receptor cysteine-rich domain

Trypsinaa 256–484UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 2

HGNC Alias Symbol

PRSS10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 620 variants

44 papers

chr21:41480570 C>T

NM_005656.4

p.V160M

c.478G>A

SRCR_2

Exome: 23.4% (AC=342061, hom=42067)Genome: 25.2% (AC=38372, hom=5307)6 overlapping SVs

16 papers

chr21:41488463 A>T

NM_005656.4

p.C126S

c.376T>A

exact variant not in gnomAD6 overlapping SVs

8 papers

chr21:41480570 C>T

NM_001135099.1

p.V197M

c.589G>A

SRCR_2

Exome: 23.4% (AC=342061, hom=42067)Genome: 25.2% (AC=38372, hom=5307)6 overlapping SVs

7 papers

chr21:41507982 C>A

NM_001135099.1

p.G8V

c.23G>T

Exome: 38.4% (AC=497026, hom=98985)Genome: 35.9% (AC=54551, hom=10283)8 overlapping SVs

6 papers

chr21:41494512 C>T

NM_005656.4

p.A28T

c.82G>A

Exome: 0.3% (AC=3948, hom=5)Genome: 0.2% (AC=279, hom=0)6 overlapping SVs

6 papers

chr21:41494401 C>T

NM_005656.4

p.V65I

c.193G>A

Exome: 0.0% (AC=194, hom=0)Genome: 0.0% (AC=20, hom=0)6 overlapping SVs

6 papers

chr21:41473336 G>A

NM_005656.4

p.H296H

c.888C>T

Trypsin

exact variant not in gnomAD8 overlapping SVs

5 papers

chr21:41489528 C>T

NM_005656.4

p.A102T

c.304G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a6 overlapping SVs

5 papers

chr21:41480507 C>T

NM_005656.4

p.G181R

c.541G>A

SRCR_2

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

5 papers

chr21:41473447 G>A

NM_005656.4

p.G259G

c.777C>T

Trypsin

Exome: 23.0% (AC=334864, hom=39911)Genome: 22.1% (AC=33624, hom=4042)8 overlapping SVs

5 papers

chr21:41468407 C>A

NM_005656.4

p.D435Y

c.1303G>T

Trypsin

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

4 papers

chr21:41494556 G>A

NM_005656.4

p.P13L

c.38C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 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."