Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1

SERPINF1

243 papers

RefSeq Summary

This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly i...

Pfam Domains

Serpinaa 56–415UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family F member 1

HGNC Previous Symbol

PEDF

Papers
RefSeq ID
Protein change
DNA change
1–12 of 300 variants
12 papers
NM_002615.7
p.A91_S93ins1
c.271_279dup9
12 papers
NM_002615.7
p.F277del1
c.829_830delTTC
11 papers
NM_002615.7
p.S24insFs
c.72dupC
10 papers
NM_002615.7
p.T72M
c.215C>T
8 papers
NM_002615.7
p.R99*
c.295C>T
6 papers
NM_002615.7
p.S81C
c.242C>G
6 papers
NM_002615.7
p.A131D
c.392C>A
5 papers
NM_002615.7
p.E27fs
c.79_80fs
5 papers
NM_002615.7
p.A56G
c.167C>G
5 papers
NM_002615.7
p.W217*
c.651G>A
4 papers
NM_002615.7
p.R141insFs
c.421dupC
4 papers
NM_002615.7
p.K147Splc
c.439+34C>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."