Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.L10P

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.L10P
c.29T>C
Surrounding Variants
3 papers
NM_001463.4
p.L10L
c.28C>T
1 paper
NM_001463.4
p.L10M
c.28C>A
1 paper
NM_001463.4
p.L11_L12delFs
c.33_34delGC
1 paper
NM_001463.4
p.G8W
c.22G>T
1 paper
NM_001463.4
p.L12L
c.36G>A
1 paper
NM_001463.4
p.L12_R13ins2
c.36_37ins6
1 paper
NM_001463.4
p.G7G
c.21A>T
2 papers
NM_001463.4
p.G7A
c.20G>C
1 paper
NM_001463.4
p.G7E
c.20G>A
1 paper
NM_001463.4
p.G7*
c.19G>T
1 paper
NM_001463.4
p.G7ins1
c.19_20insTGC
1 paper
NM_001463.4
p.S5_P6ins0
c.15_17dupCCC
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