Varaico: Literature-Extracted Genetic Variants

Gene:PRSS22
Variant:p.P128A

PRSS22

19 papers

RefSeq Summary

This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease gen...

Pfam Domains

Trypsinaa 50–285UCSCTrypsin

Gene Aliases

HGNC Name

serine protease 22

HGNC Alias Symbols

hBSSP-4; BSSP-4; SP001LA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022119.4
p.P128A
c.382C>G
Surrounding Variants
1 paper
NM_022119.4
p.R149H
c.446G>A
1 paper
NM_022119.4
p.L80V
c.238C>G
1 paper
NM_022119.4
p.L79Q
c.236T>A
1 paper
NM_022119.4
p.A32V
c.95C>T
1 paper
NM_022119.4
p.P188L
c.563C>T
1 paper
NM_022119.4
p.L189F
c.567G>T
1 paper
NM_022119.4
p.L189F
c.567G>C
1 paper
NM_022119.4
p.P190A
c.568C>G
1 paper
NM_022119.4
p.I202T
c.605T>C
1 paper
NM_022119.4
p.R214W
c.640C>T
1 paper
NM_022119.4
p.R235Q
c.704G>A
1 paper
NM_022119.4
p.G258D
c.773G>A
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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."