Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA5
Variant:p.M1delFs

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.M1delFs
c.3delG
Surrounding Variants
1 paper
NM_000624.6
p.H20L
c.59A>T
1 paper
NM_000624.6
p.E26A
c.77A>C
1 paper
NM_000624.6
p.H35Q
c.105T>A
1 paper
NM_000624.6
p.H35Q
c.105T>G
1 paper
NM_000624.6
p.V36E
c.107T>A
1 paper
NM_000624.6
p.A38delFs
c.112delG
1 paper
NM_000624.6
p.T39A
c.115A>G
1 paper
NM_000624.6
p.T49I
c.146C>T
1 paper
NM_000624.6
p.F50F
c.150T>C
7 papers
NM_000624.6
p.A55V
c.164C>T
1 paper
NM_000624.6
p.A59T
c.175G>A
1 paper
NM_000624.6
p.A59V
c.176C>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."