Varaico: Literature-Extracted Genetic Variants

Gene:FBXO7
Variant:p.I82V

FBXO7

294 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquiti...

Pfam Domains

PI31_Prot_Naa 188–322UCSCPI31 proteasome regulator N-terminal
PI31_Prot_Naa 188–322UCSCPI31 proteasome regulator N-terminal
F-boxaa 332–374UCSCF-box domain
F-boxaa 332–374UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 7

HGNC Alias Symbols

FBX7; Fbx; PARK15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012179.4
p.I82V
c.244A>G
Surrounding Variants
1 paper
NM_012179.4
p.D80N
c.238G>A
5 papers
NM_012179.4
p.I87T
c.260T>C
1 paper
NM_012179.4
p.I74M
c.222A>G
1 paper
NM_012179.4
p.I74T
c.221T>C
1 paper
NM_012179.4
p.S90delFs
c.269_270delCC
1 paper
NM_012179.4
p.D72E
c.216C>A
1 paper
NM_012179.4
p.T91R
c.272C>G
1 paper
NM_012179.4
p.D72G
c.215A>G
4 papers
NM_012179.4
p.D92H
c.274G>C
1 paper
NM_012179.4
p.G71A
c.212G>C
1 paper
NM_012179.4
p.S93T
c.277T>A
2 papers
NM_012179.4
p.S93A
c.277T>G
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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."