Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.G124R

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.G124R
c.370G>C
Surrounding Variants
1 paper
NM_013247.5
p.G124R
c.370G>A
1 paper
NM_013247.5
p.G125A
c.374G>C
1 paper
NM_013247.5
p.R126fs
c.376_377fs
1 paper
NM_013247.5
p.L121L
c.363G>A
1 paper
NM_013247.5
p.L121W
c.362T>G
1 paper
NM_013247.5
p.L120V
c.358T>G
1 paper
NM_013247.5
p.L119L
c.357G>A
1 paper
NM_013247.5
p.P129L
c.386C>T
5 papers
NM_013247.5
p.A116fs
c.346_347fs
1 paper
NM_013247.5
p.G115G
c.345G>A
1 paper
NM_013247.5
p.G115E
c.344G>A
4 papers
NM_013247.5
p.A116insFs
c.346_347insG
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