Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB8
Variant:p.K316delFs

SERPINB8

58 papers

RefSeq Summary

The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a se...

Pfam Domains

Serpinaa 6–249UCSCSerpin (serine protease inhibitor)
Serpinaa 6–374UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 8

HGNC Previous Symbol

PI8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002640.4
p.K316delFs
c.947delA
Surrounding Variants
3 papers
NM_002640.4
p.K316fs
c.946_947fs
1 paper
NM_002640.4
p.H315Y
c.943C>T
1 paper
NM_002640.4
p.L310M
c.928C>A
1 paper
NM_002640.4
p.V308A
c.923T>C
1 paper
NM_002640.4
p.T304S
c.911C>G
2 papers
NM_002640.4
p.T304A
c.910A>G
1 paper
NM_002640.4
p.T304S
c.910A>T
1 paper
NM_002640.4
p.E327delFs
c.981delG
1 paper
NM_002640.4
p.A330T
c.988G>A
1 paper
NM_002640.4
p.A291G
c.872C>G
1 paper
NM_002640.4
p.I289T
c.866T>C
8 papers
NM_002640.4
p.R284*
c.850C>T
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."