Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.N268K

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.N268K
c.804C>A
Surrounding Variants
1 paper
NM_013247.5
p.N268K
c.804C>G
1 paper
NM_013247.5
p.Q267R
c.800A>G
1 paper
NM_013247.5
p.L266R
c.797T>G
3 papers
NM_013247.5
p.G273_I274del1
c.818_820delGCA
30 papers
NM_013247.5
p.S276C
c.826A>T
1 paper
NM_013247.5
p.D250Y
c.748G>T
1 paper
NM_013247.5
p.R247C
c.739C>T
1 paper
NM_013247.5
p.N291S
c.872A>G
4 papers
NM_013247.5
p.L243_P244delins
c.728_730delinsCAT
2 papers
NM_013247.5
p.T242M
c.725C>T
3 papers
NM_013247.5
p.D302_F303Splc
c.906+1G>C
1 paper
NM_013247.5
p.D302_F303Splc
c.906+3G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."