Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.S142A

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
2 papers
NM_013247.5
p.S142A
c.424T>G
Surrounding Variants
9 papers
NM_013247.5
p.P143A
c.427C>G
1 paper
NM_013247.5
p.P143S
c.427C>T
54 papers
NM_013247.5
p.A141S
c.421G>T
1 paper
NM_013247.5
p.V135L
c.403G>C
1 paper
NM_013247.5
p.F149F
c.447C>T
1 paper
NM_013247.5
p.P129L
c.386C>T
1 paper
NM_013247.5
p.E155D
c.465G>C
1 paper
NM_013247.5
p.E155D
c.465G>T
1 paper
NM_013247.5
p.R126fs
c.376_377fs
1 paper
NM_013247.5
p.G125A
c.374G>C
1 paper
NM_013247.5
p.G124R
c.370G>A
1 paper
NM_013247.5
p.G124R
c.370G>C
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