Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.E193K

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.E193K
c.577G>A
Surrounding Variants
2 papers
NM_004568.6
p.E194insFs
c.580_581insC
1 paper
NM_004568.6
p.M199delFs
c.595delT
1 paper
NM_004568.6
p.K202K
c.606G>A
1 paper
NM_004568.6
p.Q203L
c.608A>T
1 paper
NM_004568.6
p.Y210C
c.629A>G
1 paper
NM_004568.6
p.E213A
c.638A>C
1 paper
NM_004568.6
p.Q217insFs
c.649dupC
2 papers
NM_004568.6
p.L219delFs
c.655delA
1 paper
NM_004568.6
p.V220delFs
c.658_659delAC
1 paper
NM_004568.6
p.P222S
c.664C>T
1 paper
NM_004568.6
p.L228P
c.683T>C
1 paper
NM_004568.6
p.L228L
c.684G>C
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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."