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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSAB1

Variant:p.S40I

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

Selected Variant

1 paper

chr16:1241210 G>T

NM_003294.4

p.S40I

c.119G>T

Trypsin

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

Surrounding Variants

1 paper

chr16:1241207 G>A

NM_003294.4

p.R39K

c.116G>A

Trypsin

Exome: 0.0% (AC=2, hom=0)Genome: n/a9 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

1 paper

chr16:1241244 C>T

NM_003294.4

p.H51H

c.153C>T

Trypsin

Exome: 0.2% (AC=3058, hom=8)Genome: 2.0% (AC=3080, hom=6)9 overlapping SVs

1 paper

chr16:1241176 G>C

NM_003294.4

p.V29L

c.85G>C

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:1241176 G>T

NM_003294.4

p.V29L

c.85G>T

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr16:1241245 G>A

NM_003294.4

p.G52S

c.154G>A

Trypsin

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, 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

1 paper

chr16:1241246 G>A

NM_003294.4

p.G52D

c.155G>A

Trypsin

Exome: 0.0% (AC=159, hom=5)Genome: 0.0% (AC=54, hom=1)9 overlapping SVs

2 papers

chr16:1241159 G>T

NM_003294.4

p.G23V

c.68G>T

Exome: 30.8% (AC=330908, hom=219)Genome: 24.9% (AC=27976, hom=9)9 overlapping SVs

1 paper

chr16:1241268 C>T

NM_003294.4

p.C59C

c.177C>T

Trypsin

Exome: 0.0% (AC=208, hom=0)Genome: 0.0% (AC=30, hom=0)9 overlapping SVs

1 paper

chr16:1241289 C>G

NM_003294.4

p.P66P

c.198C>G

Trypsin

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=8, hom=0)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

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