Varaico: Literature-Extracted Genetic Variants

Gene:FBXW4
Variant:p.R308C

FBXW4

30 papers

RefSeq Summary

This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly ...

Pfam Domains

F-box-likeaa 28–74UCSCF-box-like
F-box-likeaa 183–229UCSCF-box-like
WD40aa 192–228UCSCWD domain, G-beta repeat
WD40aa 326–365UCSCWD domain, G-beta repeat
WD40aa 347–383UCSCWD domain, G-beta repeat
WD40aa 481–520UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 4

HGNC Previous Symbol

SHFM3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022039.4
p.R308C
c.922C>T
Surrounding Variants
1 paper
NM_022039.4
p.P301L
c.902C>T
1 paper
NM_022039.4
p.H343Y
c.1027C>T
1 paper
NM_022039.4
p.C273Y
c.818G>A
2 papers
NM_022039.4
p.K380_V381Splc
c.1141-2A>C
1 paper
NM_022039.4
p.A406T
c.1216G>A
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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."