Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K102*

SERPINC1

777 papers

RefSeq Summary

The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of...

Pfam Domains

Serpinaa 85–461UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family C member 1

HGNC Previous Symbol

AT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000488.4
p.K102*
c.304A>T
Surrounding Variants
1 paper
NM_000488.4
p.K102R
c.305A>G
1 paper
NM_000488.4
p.S101F
c.302C>T
4 papers
NM_000488.4
p.S101C
c.302C>G
1 paper
NM_000488.4
p.D100G
c.299A>G
1 paper
NM_000488.4
p.D104V
c.311A>T
1 paper
NM_000488.4
p.D104A
c.311A>C
1 paper
NM_000488.4
p.A99fs
c.295_296fs
1 paper
NM_000488.4
p.A99E
c.296C>A
1 paper
NM_000488.4
p.L98delFs
c.292_293delAG
1 paper
NM_000488.4
p.N105K
c.315T>G
1 paper
NM_000488.4
p.N105K
c.315T>A
1 paper
NM_000488.4
p.D106N
c.316G>A
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."