Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB8
Variant:p.L85W

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
1 paper
NM_002640.4
p.L85W
c.254T>G
Surrounding Variants
1 paper
NM_002640.4
p.L86F
c.256C>T
1 paper
NM_002640.4
p.Y84F
c.251A>T
1 paper
NM_002640.4
p.L86L
c.258T>C
1 paper
NM_002640.4
p.K96_T97del2
c.286_290del6
1 paper
NM_002640.4
p.P102S
c.304C>T
2 papers
NM_002640.4
p.R68Q
c.203G>A
1 paper
NM_002640.4
p.D65G
c.194A>G
1 paper
NM_002640.4
p.L58_F70del13
c.172_209del39
1 paper
NM_002640.4
p.Q56_A57Splc
c.169-1G>T
1 paper
NM_002640.4
p.Q56_A57Splc
c.169-2A>G
1 paper
NM_002640.4
p.Q56_A57Splc
c.168+36T>G
1 paper
NM_002640.4
p.A46T
c.136G>A
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