Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.M1delFs

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.M1delFs
c.2delA
Surrounding Variants
2 papers
NM_001463.4
p.M1I
c.3G>T
2 papers
NM_001463.4
p.M1I
c.3G>C
3 papers
NM_001463.4
p.M1I
c.3G>A
2 papers
NM_001463.4
p.M1T
c.2T>C
1 paper
NM_001463.4
p.M1K
c.2T>A
2 papers
NM_001463.4
p.V2I
c.4G>A
1 paper
NM_001463.4
p.G4R
c.10G>C
2 papers
NM_001463.4
p.G4S
c.10G>A
2 papers
NM_001463.4
p.G4A
c.11G>C
2 papers
NM_001463.4
p.G4D
c.11G>A
1 paper
NM_001463.4
p.G4G
c.12C>T
1 paper
NM_001463.4
p.S5T
c.14G>C
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