Varaico: Literature-Extracted Genetic Variants

Gene:FBXW4
Variant:p.C526W

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.C526W
c.1578C>G
Surrounding Variants
1 paper
NM_022039.4
p.C526G
c.1576T>G
1 paper
NM_022039.4
p.L518V
c.1552C>G
2 papers
NM_022039.4
p.N503_L505del3
c.1507_1514del9
1 paper
NM_022039.4
p.S434Splc
c.1301+4493T>C
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