Varaico: Literature-Extracted Genetic Variants

Gene:FBXL18

FBXL18

39 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some p...

Pfam Domains

F-box-likeaa 33–75UCSCF-box-like
LRR_FBXL18aa 85–675UCSCF-box/LRR-repeat protein 18, LRR

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 18

HGNC Alias Symbols

FLJ11467; Fbl18

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
2 papers
NM_024963.6
p.M1K
c.2T>A
2 papers
NM_024963.6
p.A274V
c.821C>T
2 papers
NM_024963.6
p.R594Splc
c.1781+161G>A
1 paper
NM_024963.6
p.I39T
c.116T>C
1 paper
NM_024963.6
p.L48V
c.142C>G
1 paper
NM_024963.6
p.R57W
c.169C>T
1 paper
NM_024963.6
p.C63F
c.188G>T
1 paper
NM_024963.6
p.L68L
c.204C>A
1 paper
NM_024963.6
p.Q75K
c.223C>A
1 paper
NM_024963.6
p.V85fs
c.253_254fs
1 paper
NM_024963.6
p.V85_R86delFs
c.254_257del4
1 paper
NM_024963.6
p.A116V
c.347C>T
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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."