Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.R102C

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.R102C
c.304C>T
Surrounding Variants
1 paper
NM_013247.5
p.R102P
c.305G>C
1 paper
NM_013247.5
p.S103S
c.309G>C
1 paper
NM_013247.5
p.G100R
c.298G>A
1 paper
NM_013247.5
p.G100R
c.298G>C
1 paper
NM_013247.5
p.N98S
c.293A>G
2 papers
NM_013247.5
p.W106G
c.316T>G
1 paper
NM_013247.5
p.V109V
c.327G>A
1 paper
NM_013247.5
p.R93R
c.277C>A
1 paper
NM_013247.5
p.T92A
c.274A>G
4 papers
NM_013247.5
p.A116insFs
c.346_347insG
1 paper
NM_013247.5
p.G114delFs
c.340delG
1 paper
NM_013247.5
p.G115E
c.344G>A
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