Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.L19insFs

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.L19insFs
c.56_57insA
Surrounding Variants
1 paper
NM_001463.4
p.L19L
c.57G>A
1 paper
NM_001463.4
p.L19L
c.55C>T
1 paper
NM_001463.4
p.A18A
c.54C>T
1 paper
NM_001463.4
p.A18V
c.53C>T
2 papers
NM_001463.4
p.A18T
c.52G>A
1 paper
NM_001463.4
p.L17I
c.49C>A
1 paper
NM_001463.4
p.L16R
c.47T>G
1 paper
NM_001463.4
p.C23R
c.67T>C
1 paper
NM_001463.4
p.C23Y
c.68G>A
1 paper
NM_001463.4
p.G15E
c.44G>A
1 paper
NM_001463.4
p.C23_L24insFs
c.69_70ins4
1 paper
NM_001463.4
p.A14G
c.41C>G
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