Varaico: Literature-Extracted Genetic Variants

Gene:FBXO45
Variant:p.I148V

FBXO45

22 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

F-box-likeaa 37–85UCSCF-box-like
SPRYaa 154–281UCSCSPRY domain

Gene Aliases

HGNC Name

F-box protein 45

HGNC Alias Symbol

Fbx45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105573.2
p.I148V
c.442A>G
Surrounding Variants
1 paper
NM_001105573.2
p.R154H
c.461G>A
1 paper
NM_001105573.2
p.T175T
c.525A>G
1 paper
NM_001105573.2
p.R177W
c.529C>T
1 paper
NM_001105573.2
p.T116A
c.346A>G
2 papers
NM_001105573.2
p.R108C
c.322C>T
1 paper
NM_001105573.2
p.D238A
c.713A>C
1 paper
NM_001105573.2
p.A253delFs
c.759delT
1 paper
NM_001105573.2
p.L262F
c.786A>C
1 paper
NM_001105573.2
p.L262F
c.786A>T
1 paper
NM_001105573.2
p.G286R
c.856G>A
1 paper
NM_001105573.2
p.G286R
c.856G>C
1 paper
NM_001105573.2
p.C98G
c.292T>G
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