Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L101_E102insFs

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
1 paper
NM_000295.5
p.L101_E102insFs
c.303_304insT
Surrounding Variants
1 paper
NM_000295.5
p.L101P
c.302T>C
1 paper
NM_000295.5
p.E102K
c.304G>A
2 papers
NM_000295.5
p.E102E
c.306G>A
1 paper
NM_000295.5
p.I100N
c.299T>A
1 paper
NM_000295.5
p.G103R
c.307G>C
1 paper
NM_000295.5
p.G103V
c.308G>T
19 papers
NM_000295.5
p.G103D
c.308G>A
1 paper
NM_000295.5
p.I100F
c.298A>T
1 paper
NM_000295.5
p.T96_E99delFs
c.288_297del10
1 paper
NM_000295.5
p.G103delins
c.307_309delinsAAT
8 papers
NM_000295.5
p.E99V
c.296A>T
1 paper
NM_000295.5
p.L104insFs
c.311_312insAT
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