Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.I199V

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.I199V
c.595A>G
Surrounding Variants
3 papers
NM_001463.4
p.V198Splc
c.593-1G>A
37 papers
NM_001463.4
p.R200W
c.598C>T
1 paper
NM_001463.4
p.R200L
c.599G>T
3 papers
NM_001463.4
p.R200Q
c.599G>A
1 paper
NM_001463.4
p.V198Splc
c.593-2A>G
1 paper
NM_001463.4
p.K202E
c.604A>G
1 paper
NM_001463.4
p.V203I
c.607G>A
1 paper
NM_001463.4
p.H211R
c.632A>G
1 paper
NM_001463.4
p.H211delFs
c.631delG
1 paper
NM_001463.4
p.T214A
c.640A>G
1 paper
NM_001463.4
p.V216L
c.646G>T
1 paper
NM_001463.4
p.V217M
c.649G>A
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