Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.R324C

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.R324C
c.970C>T
Surrounding Variants
37 papers
NM_001463.4
p.R324G
c.970C>G
1 paper
NM_001463.4
p.R321Q
c.962G>A
3 papers
NM_001463.4
p.P320T
c.958C>A
1 paper
NM_001463.4
p.R316K
c.947G>A
1 paper
NM_001463.4
p.D307insFs
c.919_920insC
1 paper
NM_001463.4
p.S304N
c.911G>A
1 paper
NM_001463.4
p.D302H
c.904G>C
1 paper
NM_001463.4
p.G297A
c.890G>C
1 paper
NM_001463.4
p.H295R
c.884A>G
2 papers
NM_001463.4
p.R294H
c.881G>A
1 paper
NM_001463.4
p.R288P
c.863G>C
1 paper
NM_001463.4
p.K287_R288Splc
c.861+18G>C
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