Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.V316M

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
2 papers
NM_004568.6
p.V316M
c.946G>A
Surrounding Variants
1 paper
NM_004568.6
p.S313F
c.938C>T
1 paper
NM_004568.6
p.S311_L312delFs
c.931_935del5
1 paper
NM_004568.6
p.S319Y
c.956C>A
1 paper
NM_004568.6
p.S311T
c.931T>A
1 paper
NM_004568.6
p.M305I
c.915G>C
1 paper
NM_004568.6
p.E326G
c.977A>G
1 paper
NM_004568.6
p.G327R
c.979G>C
2 papers
NM_004568.6
p.T328M
c.983C>T
1 paper
NM_004568.6
p.S303C
c.908C>G
1 paper
NM_004568.6
p.A332P
c.994G>C
1 paper
NM_004568.6
p.A300T
c.898G>A
1 paper
NM_004568.6
p.A333V
c.998C>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."