Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB13
Variant:p.A298V

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
1 paper
NM_012397.4
p.A298V
c.893C>T
Surrounding Variants
3 papers
NM_012397.4
p.G293S
c.877G>A
1 paper
NM_012397.4
p.G306S
c.916G>A
1 paper
NM_012397.4
p.R287L
c.860G>T
1 paper
NM_012397.4
p.A346T
c.1036G>A
1 paper
NM_012397.4
p.V355I
c.1063G>A
1 paper
NM_012397.4
p.F370I
c.1108T>A
1 paper
NM_012397.4
p.D251N
c.751G>A
1 paper
NM_012397.4
p.D241Y
c.721G>T
1 paper
NM_012397.4
p.G234G
c.702G>A
1 paper
NM_012397.4
p.L228F
c.684G>C
1 paper
NM_012397.4
p.D227G
c.680A>G
1 paper
NM_012397.4
p.Q212*
c.634C>T
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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."