Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.L46V

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.L46V
c.136C>G
Surrounding Variants
1 paper
NM_001463.4
p.S45F
c.134C>T
1 paper
NM_001463.4
p.P47L
c.140C>T
1 paper
NM_001463.4
p.W48*
c.143G>A
1 paper
NM_001463.4
p.N49I
c.146A>T
1 paper
NM_001463.4
p.L42L
c.124C>T
1 paper
NM_001463.4
p.M50V
c.148A>G
2 papers
NM_001463.4
p.T51S
c.151A>T
2 papers
NM_001463.4
p.T51S
c.152C>G
1 paper
NM_001463.4
p.I40insFs
c.118_119insAC
1 paper
NM_001463.4
p.I40V
c.118A>G
1 paper
NM_001463.4
p.R39H
c.116G>A
2 papers
NM_001463.4
p.R39S
c.115C>A
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