Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.A14G

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.A14G
c.41C>G
Surrounding Variants
1 paper
NM_001463.4
p.G15E
c.44G>A
1 paper
NM_001463.4
p.L12_R13ins2
c.36_37ins6
1 paper
NM_001463.4
p.L12L
c.36G>A
1 paper
NM_001463.4
p.L16R
c.47T>G
1 paper
NM_001463.4
p.L11_L12delFs
c.33_34delGC
1 paper
NM_001463.4
p.L17I
c.49C>A
2 papers
NM_001463.4
p.A18T
c.52G>A
1 paper
NM_001463.4
p.L10P
c.29T>C
1 paper
NM_001463.4
p.A18V
c.53C>T
3 papers
NM_001463.4
p.L10L
c.28C>T
1 paper
NM_001463.4
p.A18A
c.54C>T
1 paper
NM_001463.4
p.L10M
c.28C>A
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