Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A416S

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
45 papers
NM_000488.4
p.A416S
c.1246G>T
Surrounding Variants
9 papers
NM_000488.4
p.A416P
c.1246G>C
1 paper
NM_000488.4
p.A414del1
c.1240_1241delTGC
3 papers
NM_000488.4
p.A416insFs
c.1247dupC
1 paper
NM_000488.4
p.S417fs
c.1249_1250fs
1 paper
NM_000488.4
p.E413del1
c.1237_1238delTTC
7 papers
NM_000488.4
p.A414T
c.1240G>A
1 paper
NM_000488.4
p.T418I
c.1253C>T
1 paper
NM_000488.4
p.E413V
c.1238A>T
1 paper
NM_000488.4
p.A419fs
c.1255_1256fs
1 paper
NM_000488.4
p.E413K
c.1237G>A
1 paper
NM_000488.4
p.S412R
c.1236T>G
1 paper
NM_000488.4
p.S412R
c.1236T>A
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