Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB13
Variant:p.F28L

SERPINB13

54 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by R...

Pfam Domains

Serpinaa 6–391UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 13

HGNC Previous Symbol

PI13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012397.4
p.F28L
c.84C>A
Surrounding Variants
1 paper
NM_012397.4
p.F28L
c.84C>G
1 paper
NM_012397.4
p.F28L
c.82T>C
1 paper
NM_012397.4
p.P31delFs
c.92delC
1 paper
NM_012397.4
p.G33S
c.97G>A
1 paper
NM_012397.4
p.N23Y
c.67A>T
1 paper
NM_012397.4
p.T22_N23delFs
c.64_67del4
1 paper
NM_012397.4
p.K17I
c.50A>T
1 paper
NM_012397.4
p.L15L
c.45T>G
1 paper
NM_012397.4
p.L11F
c.31C>T
1 paper
NM_012397.4
p.A50T
c.148G>A
1 paper
NM_012397.4
p.A6A
c.18C>A
1 paper
NM_012397.4
p.A6T
c.16G>A
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