Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.S58F

SERPINB6

291 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor...

Pfam Domains

Serpinaa 6–376UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 6

HGNC Previous Symbols

PI6; DFNB91

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004568.6
p.S58F
c.173C>T
Surrounding Variants
1 paper
NM_004568.6
p.F59F
c.177C>T
1 paper
NM_004568.6
p.I56delFs
c.167delA
1 paper
NM_004568.6
p.Q55_I56Splc
c.166-1G>T
1 paper
NM_004568.6
p.Q55_I56Splc
c.166-2A>G
2 papers
NM_004568.6
p.G64S
c.190G>A
1 paper
NM_004568.6
p.G64A
c.191G>C
1 paper
NM_004568.6
p.G64D
c.191G>A
4 papers
NM_004568.6
p.G71R
c.211G>C
3 papers
NM_004568.6
p.G71A
c.212G>C
1 paper
NM_004568.6
p.S74C
c.221C>G
1 paper
NM_004568.6
p.E78K
c.232G>A
1 paper
NM_004568.6
p.G83S
c.247G>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."