Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.P347S

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.P347S
c.1039C>T
Surrounding Variants
1 paper
NM_004568.6
p.V346L
c.1036G>C
1 paper
NM_004568.6
p.R348H
c.1043G>A
1 paper
NM_004568.6
p.A336V
c.1007C>T
2 papers
NM_004568.6
p.A335A
c.1005T>C
1 paper
NM_004568.6
p.A335P
c.1003G>C
1 paper
NM_004568.6
p.T334I
c.1001C>T
1 paper
NM_004568.6
p.A333V
c.998C>T
1 paper
NM_004568.6
p.H361R
c.1082A>G
1 paper
NM_004568.6
p.A332P
c.994G>C
2 papers
NM_004568.6
p.T328M
c.983C>T
1 paper
NM_004568.6
p.G366R
c.1096G>C
1 paper
NM_004568.6
p.G366R
c.1096G>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."