Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6

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
1–12 of 159 variants
7 papers
NM_004568.6
p.M90V
c.268A>G
4 papers
NM_004568.6
p.M1T
c.2T>C
4 papers
NM_004568.6
p.G71R
c.211G>C
4 papers
NM_004568.6
p.E245*
c.733G>T
3 papers
NM_004568.6
p.A5P
c.13G>C
3 papers
NM_004568.6
p.M34T
c.101T>C
3 papers
NM_004568.6
p.G71A
c.212G>C
2 papers
NM_004568.6
p.M1V
c.1A>G
2 papers
NM_004568.6
p.Y42C
c.125A>G
2 papers
NM_004568.6
p.K46E
c.136A>G
2 papers
NM_004568.6
p.G64S
c.190G>A
2 papers
NM_004568.6
p.E194insFs
c.580_581insC
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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."