Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.V63F

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.V63F
c.187G>T
Surrounding Variants
1 paper
NM_013247.5
p.V65_T66insFs
c.195_196insT
1 paper
NM_013247.5
p.A59G
c.176C>G
1 paper
NM_013247.5
p.P68S
c.202C>T
1 paper
NM_013247.5
p.W58R
c.172T>A
1 paper
NM_013247.5
p.W58R
c.172T>C
6 papers
NM_013247.5
p.L72P
c.215T>C
1 paper
NM_013247.5
p.T76N
c.227C>A
1 paper
NM_013247.5
p.T76I
c.227C>T
1 paper
NM_013247.5
p.R80Q
c.239G>A
3 papers
NM_013247.5
p.Q82*
c.244C>T
1 paper
NM_013247.5
p.R36W
c.106C>T
1 paper
NM_013247.5
p.T92A
c.274A>G
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