Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.V154insFs

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.V154insFs
c.461_462insA
Surrounding Variants
1 paper
NM_001463.4
p.V154I
c.460G>A
1 paper
NM_001463.4
p.D157G
c.470A>G
1 paper
NM_001463.4
p.E151G
c.452A>G
1 paper
NM_001463.4
p.G158A
c.473G>C
1 paper
NM_001463.4
p.S149ins1
c.446_447insAAC
1 paper
NM_001463.4
p.S149ins1
c.446_447insGAA
1 paper
NM_001463.4
p.I148T
c.443T>C
2 papers
NM_001463.4
p.V146V
c.438G>A
1 paper
NM_001463.4
p.Y142_D143delFs
c.424_427del4
1 paper
NM_001463.4
p.D143N
c.427G>A
1 paper
NM_001463.4
p.Y142H
c.424T>C
1 paper
NM_001463.4
p.L139L
c.415C>T
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