Varaico: Literature-Extracted Genetic Variants

Gene:FRZB

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
1–12 of 210 variants
37 papers
NM_001463.4
p.R200W
c.598C>T
37 papers
NM_001463.4
p.R324G
c.970C>G
6 papers
NM_001463.4
p.R232Q
c.695G>A
3 papers
NM_001463.4
p.M1I
c.3G>A
3 papers
NM_001463.4
p.L10L
c.28C>T
3 papers
NM_001463.4
p.G168R
c.502G>C
3 papers
NM_001463.4
p.G168R
c.502G>A
3 papers
NM_001463.4
p.V198Splc
c.593-1G>A
3 papers
NM_001463.4
p.R200Q
c.599G>A
3 papers
NM_001463.4
p.P320T
c.958C>A
2 papers
NM_001463.4
p.M1T
c.2T>C
2 papers
NM_001463.4
p.M1I
c.3G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."