Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.E27D

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
Selected Variant
1 paper
NM_002615.7
p.E27D
c.81G>C
Surrounding Variants
2 papers
NM_002615.7
p.E27D
c.81G>T
2 papers
NM_002615.7
p.E28K
c.82G>A
1 paper
NM_002615.7
p.E28fs
c.82_83fs
2 papers
NM_002615.7
p.E27K
c.79G>A
1 paper
NM_002615.7
p.E27insFs
c.80dupA
1 paper
NM_002615.7
p.E27fs
c.79_80fs
1 paper
NM_002615.7
p.E27*
c.79G>T
5 papers
NM_002615.7
p.E27fs
c.79_80fs
1 paper
NM_002615.7
p.P26R
c.77C>G
2 papers
NM_002615.7
p.P26L
c.77C>T
1 paper
NM_002615.7
p.S24S
c.72C>T
1 paper
NM_002615.7
p.S24N
c.71G>A
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