Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.C80S

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.C80S
c.238T>A
Surrounding Variants
1 paper
NM_001463.4
p.P82S
c.244C>T
1 paper
NM_001463.4
p.L84L
c.250C>T
1 paper
NM_001463.4
p.F86I
c.256T>A
1 paper
NM_001463.4
p.G74S
c.220G>A
1 paper
NM_001463.4
p.E73A
c.218A>C
1 paper
NM_001463.4
p.F72L
c.216C>G
1 paper
NM_001463.4
p.L88F
c.262C>T
1 paper
NM_001463.4
p.Q71*
c.211C>T
1 paper
NM_001463.4
p.Q71E
c.211C>G
1 paper
NM_001463.4
p.I69M
c.207C>G
1 paper
NM_001463.4
p.A90A
c.270C>A
1 paper
NM_001463.4
p.I69V
c.205A>G
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