Varaico: Literature-Extracted Genetic Variants

Gene:FBXW4
Variant:p.Q4_G5del1

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.Q4_G5del1
c.12_14delCCC
Surrounding Variants
1 paper
NM_022039.4
p.G11insFs
c.31dupG
2 papers
NM_022039.4
p.N12_G14del0
c.35_40del6
1 paper
NM_022039.4
p.G13_G14del1
c.38_40delCGC
1 paper
NM_022039.4
p.N12_G14del3
c.34_41del9
1 paper
NM_022039.4
p.P15ins1
c.44_45insGGC
1 paper
NM_022039.4
p.K38T
c.113A>C
1 paper
NM_022039.4
p.G39E
c.116G>A
1 paper
NM_022039.4
p.K38_K40del3
c.112_119del9
2 papers
NM_022039.4
p.K35_K40del6
c.103_119del18
1 paper
NM_022039.4
p.K44_A45insGGC
c.130_134ins9
1 paper
NM_022039.4
p.R137delFs
c.409delT
2 papers
NM_022039.4
p.E168del1
c.502_503delCTC
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