Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.L20delFs

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.L20delFs
c.59_60delTG
Surrounding Variants
1 paper
NM_013247.5
p.L20fs
c.58_59fs
1 paper
NM_013247.5
p.L20fs
c.58_59fs
1 paper
NM_013247.5
p.L20delFs
c.60delG
1 paper
NM_013247.5
p.R18R
c.54G>C
1 paper
NM_013247.5
p.R18W
c.52C>T
1 paper
NM_013247.5
p.G22R
c.64G>C
1 paper
NM_013247.5
p.G22A
c.65G>C
1 paper
NM_013247.5
p.G22G
c.66C>G
1 paper
NM_013247.5
p.R15Q
c.44G>A
1 paper
NM_013247.5
p.R15W
c.43C>T
1 paper
NM_013247.5
p.W25C
c.75G>C
6 papers
NM_013247.5
p.G26E
c.77G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."