Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.P6L

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.P6L
c.17C>T
Surrounding Variants
1 paper
NM_001463.4
p.S5_P6ins0
c.15_17dupCCC
1 paper
NM_001463.4
p.G7*
c.19G>T
1 paper
NM_001463.4
p.G7ins1
c.19_20insTGC
1 paper
NM_001463.4
p.S5R
c.15C>A
2 papers
NM_001463.4
p.G7A
c.20G>C
1 paper
NM_001463.4
p.S5T
c.14G>C
2 papers
NM_001463.4
p.S5N
c.14G>A
1 paper
NM_001463.4
p.G7E
c.20G>A
1 paper
NM_001463.4
p.G7G
c.21A>T
1 paper
NM_001463.4
p.G8W
c.22G>T
1 paper
NM_001463.4
p.G4G
c.12C>T
2 papers
NM_001463.4
p.G4A
c.11G>C
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