Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.S306A

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
29 papers
NM_013247.5
p.S306A
c.916T>G
Surrounding Variants
2 papers
NM_013247.5
p.S306C
c.917C>G
1 paper
NM_013247.5
p.D302_F303Splc
c.906+35G>C
1 paper
NM_001321727.1
p.L313_A314Splc
c.940-1G>C
1 paper
NM_013247.5
p.D302_F303Splc
c.906+3G>A
3 papers
NM_013247.5
p.D302_F303Splc
c.906+1G>C
3 papers
NM_013247.5
p.G315E
c.944G>A
1 paper
NM_013247.5
p.I318N
c.953T>A
1 paper
NM_013247.5
p.G319E
c.956G>A
1 paper
NM_013247.5
p.N291S
c.872A>G
1 paper
NM_013247.5
p.M323R
c.968T>G
1 paper
NM_013247.5
p.K324R
c.971A>G
1 paper
NM_013247.5
p.V325D
c.974T>A
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