Varaico: Literature-Extracted Genetic Variants

Gene:FBXL7

FBXL7

81 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box p...

Pfam Domains

F-boxaa 114–156UCSCF-box domain
F-boxaa 114–156UCSCF-box domain
LRR_FBXL15aa 181–321UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain
LRR_FBXL15aa 275–482UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 7

HGNC Alias Symbols

KIAA0840; FBL7; FBL6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
2 papers
NM_012304.5
p.P91L
c.272C>T
2 papers
NM_012304.5
p.H98Y
c.292C>T
2 papers
NM_012304.5
p.A138T
c.412G>A
2 papers
NM_012304.5
p.P151L
c.452C>T
2 papers
NM_012304.5
p.N165N
c.495C>T
2 papers
NM_012304.5
p.V166M
c.496G>A
2 papers
NM_012304.5
p.Q271H
c.813G>C
2 papers
NM_012304.5
p.Q271H
c.813G>T
2 papers
NM_012304.5
p.R275C
c.823C>T
2 papers
NM_012304.5
p.V337L
c.1009G>C
2 papers
NM_012304.5
p.R353Q
c.1058G>A
2 papers
NM_012304.5
p.G393S
c.1177G>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."