Varaico: Literature-Extracted Genetic Variants

Gene:FBXW12

FBXW12

29 papers

RefSeq Summary

Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-b...

Pfam Domains

F-box-likeaa 3–48UCSCF-box-like

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 12

HGNC Previous Symbol

FBXO35

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
5 papers
NM_207102.2
p.P6L
c.17C>T
2 papers
NM_207102.2
p.R166W
c.496C>T
2 papers
NM_207102.2
p.F203Y
c.608T>A
2 papers
NM_207102.2
p.V273D
c.818T>A
1 paper
NM_207102.2
p.M1K
c.2T>A
1 paper
NM_207102.2
p.T64fs
c.190_191fs
1 paper
NM_207102.2
p.A82G
c.245C>G
1 paper
NM_207102.2
p.L152delFs
c.454delC
1 paper
NM_207102.2
p.M164K
c.491T>A
1 paper
NM_207102.2
p.R166fs
c.496_497fs
1 paper
NM_207102.2
p.R166Q
c.497G>A
1 paper
NM_207102.2
p.Y191C
c.572A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."