Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.T97I

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
2 papers
NM_001463.4
p.T97I
c.290C>T
Surrounding Variants
1 paper
NM_001463.4
p.C96_T97delFs
c.287_291del5
1 paper
NM_001463.4
p.I98S
c.293T>G
1 paper
NM_001463.4
p.C96S
c.287G>C
1 paper
NM_001463.4
p.I98I
c.294T>A
1 paper
NM_001463.4
p.C96S
c.286T>A
1 paper
NM_001463.4
p.I95fs
c.283_284fs
1 paper
NM_001463.4
p.P94delFs
c.282delG
1 paper
NM_001463.4
p.F100S
c.299T>C
1 paper
NM_001463.4
p.Y92fs
c.274_275fs
1 paper
NM_001463.4
p.H102Q
c.306C>G
1 paper
NM_001463.4
p.H102Q
c.306C>A
1 paper
NM_001463.4
p.A90A
c.270C>A
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