Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB13
Variant:p.V178M

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.V178M
c.532G>A
Surrounding Variants
1 paper
NM_012397.4
p.L177P
c.530T>C
1 paper
NM_012397.4
p.K174insFs
c.522dupG
1 paper
NM_012397.4
p.Q186E
c.556C>G
1 paper
NM_012397.4
p.K159Q
c.475A>C
1 paper
NM_012397.4
p.V211I
c.631G>A
1 paper
NM_012397.4
p.Q212*
c.634C>T
1 paper
NM_012397.4
p.Q212delFs
c.635delA
1 paper
NM_012397.4
p.D227G
c.680A>G
1 paper
NM_012397.4
p.L228F
c.684G>C
1 paper
NM_012397.4
p.G234G
c.702G>A
1 paper
NM_012397.4
p.D241Y
c.721G>T
1 paper
NM_012397.4
p.D251N
c.751G>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."