Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.M90V

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
7 papers
NM_004568.6
p.M90V
c.268A>G
Surrounding Variants
1 paper
NM_004568.6
p.M90K
c.269T>A
1 paper
NM_001271823.2
p.Y105_M109delFs
c.313_326del14
1 paper
NM_004568.6
p.N92I
c.275A>T
1 paper
NM_004568.6
p.E97K
c.289G>A
1 paper
NM_004568.6
p.G83S
c.247G>A
1 paper
NM_004568.6
p.E97G
c.290A>G
1 paper
NM_004568.6
p.D101V
c.302A>T
1 paper
NM_004568.6
p.E78K
c.232G>A
1 paper
NM_004568.6
p.S74C
c.221C>G
3 papers
NM_004568.6
p.G71A
c.212G>C
4 papers
NM_004568.6
p.G71R
c.211G>C
1 paper
NM_004568.6
p.G64A
c.191G>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."