Varaico: Literature-Extracted Genetic Variants

Gene:FBXW8
Variant:p.E253D

FBXW8

46 papers

RefSeq Summary

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of...

Pfam Domains

F-boxaa 117–158UCSCF-box domain

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 8

HGNC Previous Symbol

FBXO29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_153348.3
p.E253D
c.759G>C
Surrounding Variants
2 papers
NM_153348.3
p.E253D
c.759G>T
2 papers
NM_153348.3
p.M258I
c.774G>A
2 papers
NM_153348.3
p.M258I
c.774G>C
2 papers
NM_153348.3
p.M258I
c.774G>T
1 paper
NM_153348.3
p.N268_S269Fs
c.803_807delinsTFs
1 paper
NM_153348.3
p.R238C
c.712C>T
1 paper
NM_153348.3
p.R233S
c.699A>C
1 paper
NM_153348.3
p.G230_D231insFs
c.690_691insC
1 paper
NM_153348.3
p.G230insFs
c.690dupG
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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."