Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2

HTRA2

292 papers

RefSeq Summary

This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein ha...

Pfam Domains

Trypsin_2aa 182–320UCSCTrypsin-like peptidase domain
PDZ_6aa 370–411UCSCPDZ domain
PDZ_6aa 392–443UCSCPDZ domain

Gene Aliases

HGNC Name

HtrA serine peptidase 2

HGNC Previous Symbol

PRSS25

Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
85 papers
NM_013247.5
p.G399S
c.1195G>A
54 papers
NM_013247.5
p.A141S
c.421G>T
30 papers
NM_013247.5
p.S276C
c.826A>T
29 papers
NM_013247.5
p.S306A
c.916T>G
11 papers
NM_013247.5
p.R404W
c.1210C>T
9 papers
NM_013247.5
p.P143A
c.427C>G
6 papers
NM_013247.5
p.G26E
c.77G>A
6 papers
NM_013247.5
p.L72P
c.215T>C
6 papers
NM_013247.5
p.R404Q
c.1211G>A
5 papers
NM_013247.5
p.A116fs
c.346_347fs
5 papers
NM_013247.5
p.A438_V439delFs
c.1312_1316del5
4 papers
NM_013247.5
p.A116insFs
c.346_347insG
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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."