Varaico: Literature-Extracted Genetic Variants

Gene:FBXL18
Variant:p.S300F

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
Selected Variant
1 paper
NM_024963.6
p.S300F
c.899C>T
Surrounding Variants
1 paper
NM_024963.6
p.V291G
c.872T>G
1 paper
NM_024963.6
p.S276S
c.828C>T
2 papers
NM_024963.6
p.A274V
c.821C>T
1 paper
NM_024963.6
p.V269A
c.806T>C
1 paper
NM_024963.6
p.L331L
c.993G>T
1 paper
NM_024963.6
p.I336M
c.1008C>G
1 paper
NM_024963.6
p.L254_R257del4
c.760_770del12
1 paper
NM_024963.6
p.L348F
c.1044G>T
1 paper
NM_024963.6
p.L348F
c.1044G>C
1 paper
NM_024963.6
p.R248W
c.742C>T
1 paper
NM_024963.6
p.V247M
c.739G>A
1 paper
NM_024963.6
p.V354I
c.1060G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."