Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.Q285*

SERPINA1

2,228 papers

RefSeq Summary

The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator....

Pfam Domains

Serpinaa 52–415UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family A member 1

HGNC Alias Symbols

AAT; A1A; alpha-1-antitrypsin; A1AT; alpha1AT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000295.5
p.Q285*
c.853C>T
Surrounding Variants
1 paper
NM_000295.5
p.Q285E
c.853C>G
1 paper
NM_000295.5
p.L284L
c.852A>G
2 papers
NM_000295.5
p.Q285P
c.854A>C
1 paper
NM_000295.5
p.Q285Q
c.855G>A
1 paper
NM_000295.5
p.Q285delFs
c.854delT
1 paper
NM_000295.5
p.H286Y
c.856C>T
1 paper
NM_000295.5
p.L284L
c.850C>T
1 paper
NM_000295.5
p.L284V
c.850C>G
1 paper
NM_000295.5
p.L284insFs
c.850_851insG
5 papers
NM_000295.5
p.K283I
c.848A>T
1 paper
NM_000295.5
p.K283*
c.847A>T
6 papers
NM_000295.5
p.L287P
c.860T>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."