Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.K324R

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.K324R
c.971A>G
Surrounding Variants
1 paper
NM_013247.5
p.V325D
c.974T>A
1 paper
NM_013247.5
p.M323R
c.968T>G
2 papers
NM_013247.5
p.G328E
c.983G>A
1 paper
NM_013247.5
p.I329L
c.985A>C
1 paper
NM_013247.5
p.G319E
c.956G>A
1 paper
NM_013247.5
p.I318N
c.953T>A
3 papers
NM_013247.5
p.G315E
c.944G>A
1 paper
NM_013247.5
p.S335T
c.1003T>A
3 papers
NM_013247.5
p.L338_R339del1
c.1013_1015delTTC
1 paper
NM_013247.5
p.R339Q
c.1016G>A
1 paper
NM_013247.5
p.F341C
c.1022T>G
1 paper
NM_001321727.1
p.L313_A314Splc
c.940-1G>C
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