Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.S74C

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.S74C
c.221C>G
Surrounding Variants
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.E78K
c.232G>A
1 paper
NM_004568.6
p.G83S
c.247G>A
1 paper
NM_004568.6
p.G64A
c.191G>C
1 paper
NM_004568.6
p.G64D
c.191G>A
2 papers
NM_004568.6
p.G64S
c.190G>A
1 paper
NM_004568.6
p.F59F
c.177C>T
7 papers
NM_004568.6
p.M90V
c.268A>G
1 paper
NM_004568.6
p.M90K
c.269T>A
1 paper
NM_004568.6
p.S58F
c.173C>T
1 paper
NM_001271823.2
p.Y105_M109delFs
c.313_326del14
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."