Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA5
Variant:p.P258L

SERPINA5

120 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of ...

Pfam Domains

Serpinaa 43–406UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family A member 5

HGNC Previous Symbols

PLANH3; PCI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000624.6
p.P258L
c.773C>T
Surrounding Variants
1 paper
NM_000624.6
p.L269F
c.805C>T
1 paper
NM_000624.6
p.V231A
c.692T>C
4 papers
NM_000624.6
p.E228Q
c.682G>C
1 paper
NM_000624.6
p.V225L
c.673G>C
1 paper
NM_000624.6
p.V225L
c.673G>T
1 paper
NM_000624.6
p.K292*
c.874A>T
1 paper
NM_000624.6
p.F223L
c.669C>A
1 paper
NM_000624.6
p.F223L
c.669C>G
1 paper
NM_000624.6
p.F223L
c.667T>C
1 paper
NM_000624.6
p.G217R
c.649G>C
1 paper
NM_000624.6
p.H215_Y224delFs
c.645_670del26
1 paper
NM_000624.6
p.Q298H
c.894G>T
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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."