Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.P121P

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.P121P
c.363C>A
Surrounding Variants
1 paper
NM_001463.4
p.G118V
c.353G>T
1 paper
NM_001463.4
p.Y126S
c.377A>C
1 paper
NM_001463.4
p.R116Q
c.347G>A
1 paper
NM_001463.4
p.R127P
c.380G>C
1 paper
NM_001463.4
p.A115G
c.344C>G
1 paper
NM_001463.4
p.S129A
c.385T>G
1 paper
NM_001463.4
p.R114Q
c.341G>A
1 paper
NM_001463.4
p.V111M
c.331G>A
2 papers
NM_001463.4
p.S110F
c.329C>T
1 paper
NM_001463.4
p.S110C
c.329C>G
2 papers
NM_001463.4
p.K109K
c.327G>A
1 paper
NM_001463.4
p.L134P
c.401T>C
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