Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.N181S

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
Selected Variant
1 paper
NM_013247.5
p.N181S
c.542A>G
Surrounding Variants
1 paper
NM_013247.5
p.G182G
c.546C>A
1 paper
NM_013247.5
p.T195_N196insT
c.583_587ins3
1 paper
NM_013247.5
p.N196D
c.586A>G
2 papers
NM_013247.5
p.V200M
c.598G>A
1 paper
NM_013247.5
p.R169Splc
c.506+40G>T
3 papers
NM_013247.5
p.T215M
c.644C>T
3 papers
NM_013247.5
p.T221P
c.661A>C
1 paper
NM_013247.5
p.A222T
c.664G>A
1 paper
NM_013247.5
p.R169Splc
c.506+6G>C
1 paper
NM_013247.5
p.R233K
c.698G>A
2 papers
NM_013247.5
p.A160A
c.480C>G
1 paper
NM_013247.5
p.E155D
c.465G>C
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