Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.A294D

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.A294D
c.881C>A
Surrounding Variants
1 paper
NM_001271822.2
p.E310fs
c.928_929fs
1 paper
NM_001271822.2
p.E310delFs
c.928delC
1 paper
NM_004568.6
p.L297P
c.890T>C
1 paper
NM_004568.6
p.G298R
c.892G>C
1 paper
NM_004568.6
p.A300T
c.898G>A
2 papers
NM_004568.6
p.R287C
c.859C>T
1 paper
NM_004568.6
p.S303C
c.908C>G
1 paper
NM_004568.6
p.M305I
c.915G>C
1 paper
NM_004568.6
p.D281E
c.843C>G
1 paper
NM_004568.6
p.D281E
c.843C>A
1 paper
NM_004568.6
p.D281N
c.841G>A
1 paper
NM_004568.6
p.Y280C
c.839A>G
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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."