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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMPRSS5

TMPRSS5

53 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in mult...

Pfam Domains

SRCR_2aa 72–169UCSCScavenger receptor cysteine-rich domain

Trypsinaa 174–404UCSCTrypsin

Gene Aliases

HGNC Name

transmembrane serine protease 5

HGNC Alias Symbols

MGC141886; MGC148044

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 66 variants

2 papers

chr11:113700130 C>T

NM_030770.4

p.Q14Q

c.42G>A

Exome: 22.8% (AC=326111, hom=38535)Genome: 21.2% (AC=32218, hom=3665)18 overlapping SVs

2 papers

chr11:113700080 T>A

NM_030770.4

p.D31V

c.92A>T

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=3, hom=0)18 overlapping SVs

2 papers

chr11:113699661 G>A

NM_030770.4

p.R47C

c.139C>T

Exome: 0.1% (AC=1709, hom=1)Genome: 0.1% (AC=101, hom=0)19 overlapping SVs

2 papers

chr11:113699000 T>C

NM_030770.4

p.Q78R

c.233A>G

exact variant not in gnomAD19 overlapping SVs

2 papers

chr11:113694565 G>C

NM_030770.4

p.A233G

c.698C>G

Trypsin

Exome: 0.0% (AC=195, hom=0)Genome: 0.0% (AC=0, hom=0)19 overlapping SVs

2 papers

chr11:113693086 C>A

NM_030770.4

p.A317S

c.949G>T

Trypsin

Exome: 0.0% (AC=0, hom=0)Genome: n/a20 overlapping SVs

2 papers

chr11:113689810 G>T

NM_030770.4

p.Y438*

c.1314C>A

Trypsin

Exome: 0.0% (AC=8, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr11:113700163 C>CA

NM_030770.4

p.L3insFs

c.8_9insT

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:113700140 A>G

NM_030770.4

p.M11T

c.32T>C

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)18 overlapping SVs

1 paper

chr11:113700105 C>A

NM_030770.4

p.G23W

c.67G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:113700092 G>A

NM_030770.4

p.A27V

c.80C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:113700092 G>T

NM_030770.4

p.A27E

c.80C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a18 overlapping SVs

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