Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB1
Variant:p.S5C

SERPINB1

58 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their ...

Pfam Domains

Serpinaa 6–379UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 1

HGNC Previous Symbol

ELANH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030666.4
p.S5C
c.13A>T
Surrounding Variants
1 paper
NM_030666.4
p.E2Q
c.4G>C
1 paper
NM_030666.4
p.T9S
c.25A>T
1 paper
NM_030666.4
p.F11S
c.32T>C
1 paper
NM_030666.4
p.L13S
c.38T>C
1 paper
NM_030666.4
p.N23K
c.69T>A
1 paper
NM_030666.4
p.P24Q
c.71C>A
1 paper
NM_030666.4
p.A25T
c.73G>A
1 paper
NM_030666.4
p.A40G
c.119C>G
1 paper
NM_030666.4
p.T50M
c.149C>T
1 paper
NM_030666.4
p.A52T
c.154G>A
1 paper
NM_030666.4
p.K56E
c.166A>G
1 paper
NM_030666.4
p.K56_T57Splc
c.169-1G>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."