Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.L282F

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.L282F
c.844C>T
Surrounding Variants
2 papers
NM_001463.4
p.K284N
c.852A>T
2 papers
NM_001463.4
p.K284N
c.852A>C
1 paper
NM_001463.4
p.L269_A275ins2
c.805_825dup21
1 paper
NM_001463.4
p.A275_E276insFs
c.825_826insA
1 paper
NM_001463.4
p.K287_R288Splc
c.861+6C>A
1 paper
NM_001463.4
p.E271G
c.812A>G
1 paper
NM_001463.4
p.K287_R288Splc
c.861+18G>C
1 paper
NM_001463.4
p.L268L
c.804C>A
1 paper
NM_001463.4
p.R264C
c.790C>T
1 paper
NM_001463.4
p.Y259C
c.776A>G
1 paper
NM_001463.4
p.Y254H
c.760T>C
1 paper
NM_001463.4
p.N251N
c.753T>C
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