Varaico: Literature-Extracted Genetic Variants

Gene:FBXW12
Variant:p.L152delFs

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
Selected Variant
1 paper
NM_207102.2
p.L152delFs
c.454delC
Surrounding Variants
1 paper
NM_207102.2
p.M164K
c.491T>A
1 paper
NM_207102.2
p.R166fs
c.496_497fs
2 papers
NM_207102.2
p.R166W
c.496C>T
1 paper
NM_207102.2
p.R166Q
c.497G>A
1 paper
NM_207102.2
p.Y191C
c.572A>G
2 papers
NM_207102.2
p.F203Y
c.608T>A
1 paper
NM_207102.2
p.E263K
c.787G>A
1 paper
NM_207102.2
p.S269L
c.806C>T
2 papers
NM_207102.2
p.V273D
c.818T>A
1 paper
NM_207102.2
p.Q302L
c.905A>T
1 paper
NM_207102.2
p.D315Y
c.943G>T
1 paper
NM_207102.2
p.G322R
c.964G>A
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