Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.P28L

FRZB

424 papers

RefSeq Summary

The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [...

Pfam Domains

Fzaa 35–143UCSCFz domain
NTRaa 188–291UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

frizzled related protein

HGNC Alias Symbols

FRZB-PEN; FRZB1; SRFP3; FRP-3; SFRP3; FRE; FRITZ; FRZB-1; FZRB; hFIZ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001463.4
p.P28L
c.83C>T
Surrounding Variants
1 paper
NM_001463.4
p.P28S
c.82C>T
1 paper
NM_001463.4
p.P28A
c.82C>G
1 paper
NM_001463.4
p.G29A
c.86G>C
1 paper
NM_001463.4
p.G29E
c.86G>A
1 paper
NM_001463.4
p.V27L
c.79G>C
1 paper
NM_001463.4
p.A30P
c.88G>C
1 paper
NM_001463.4
p.R26Q
c.77G>A
1 paper
NM_001463.4
p.R31R
c.93G>A
1 paper
NM_001463.4
p.L24L
c.72G>T
1 paper
NM_001463.4
p.A32P
c.94G>C
1 paper
NM_001463.4
p.A33P
c.97G>C
1 paper
NM_001463.4
p.C23_L24insFs
c.69_70ins4
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