Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.S166N

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.S166N
c.497G>A
Surrounding Variants
1 paper
NM_001463.4
p.N167fs
c.499_500fs
1 paper
NM_001463.4
p.S166delFs
c.498delA
1 paper
NM_001463.4
p.N167T
c.500A>C
3 papers
NM_001463.4
p.G168R
c.502G>C
3 papers
NM_001463.4
p.G168R
c.502G>A
1 paper
NM_001463.4
p.D164insFs
c.491_492insT
1 paper
NM_001463.4
p.M163V
c.487A>G
1 paper
NM_001463.4
p.D160A
c.479A>C
1 paper
NM_001463.4
p.S175G
c.523A>G
1 paper
NM_001463.4
p.G158A
c.473G>C
1 paper
NM_001463.4
p.D157G
c.470A>G
1 paper
NM_001463.4
p.V154insFs
c.461_462insA
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