Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB13
Variant:p.R145P

SERPINB13

54 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by R...

Pfam Domains

Serpinaa 6–391UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 13

HGNC Previous Symbol

PI13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012397.4
p.R145P
c.434G>C
Surrounding Variants
1 paper
NM_012397.4
p.R145Q
c.434G>A
1 paper
NM_012397.4
p.V152F
c.454G>T
1 paper
NM_012397.4
p.S131insFs
c.391_392ins4
1 paper
NM_012397.4
p.K119*
c.355A>T
1 paper
NM_012397.4
p.K112K
c.336A>G
1 paper
NM_012397.4
p.T97A
c.289A>G
1 paper
NM_012397.4
p.S94R
c.282C>A
1 paper
NM_012397.4
p.S94R
c.282C>G
1 paper
NM_012397.4
p.S94R
c.280A>C
1 paper
NM_012397.4
p.E92Q
c.274G>C
1 paper
NM_012397.4
p.E80insFs
c.238_239insG
1 paper
NM_012397.4
p.K159Q
c.475A>C
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."