Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB8
Variant:p.L19L

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
2 papers
NM_002640.4
p.L19L
c.55T>C
Surrounding Variants
1 paper
NM_002640.4
p.G20_N24delFs
c.58_70del13
1 paper
NM_002640.4
p.P32L
c.95C>T
1 paper
NM_002640.4
p.P32_M33delFs
c.96_97delCA
1 paper
NM_002640.4
p.M33I
c.99G>A
1 paper
NM_002640.4
p.M33I
c.99G>C
1 paper
NM_002640.4
p.M33I
c.99G>T
1 paper
NM_002640.4
p.D2G
c.5A>G
1 paper
NM_002640.4
p.M1K
c.2T>A
4 papers
NM_002640.4
p.M1T
c.2T>C
1 paper
NM_002640.4
p.M1V
c.1A>G
1 paper
NM_002640.4
p.M41K
c.122T>A
1 paper
NM_002640.4
p.A46T
c.136G>A
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