Varaico: Literature-Extracted Genetic Variants

Gene:PRSS22
Variant:p.G258D

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.G258D
c.773G>A
Surrounding Variants
1 paper
NM_022119.4
p.L278P
c.833T>C
1 paper
NM_022119.4
p.Q299E
c.895C>G
1 paper
NM_022119.4
p.G302delins
c.904delinsT
1 paper
NM_022119.4
p.A315V
c.944C>T
1 paper
NM_022119.4
p.*318Y
c.954G>T
1 paper
NM_022119.4
p.*318Y
c.954G>C
1 paper
NM_022119.4
p.R235Q
c.704G>A
1 paper
NM_022119.4
p.R214W
c.640C>T
1 paper
NM_022119.4
p.I202T
c.605T>C
1 paper
NM_022119.4
p.P190A
c.568C>G
1 paper
NM_022119.4
p.L189F
c.567G>T
1 paper
NM_022119.4
p.L189F
c.567G>C
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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."