Varaico: Literature-Extracted Genetic Variants

Gene:FBXO11
Variant:p.Q38*

FBXO11

221 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 ubiquitin pr...

Pfam Domains

F-box-likeaa 156–202UCSCF-box-like
Beta_helixaa 387–543UCSCRight handed beta helix region
Beta_helixaa 664–823UCSCRight handed beta helix region
zf-UBRaa 834–902UCSCPutative zinc finger in N-recognin (UBR box)

Gene Aliases

HGNC Name

F-box protein 11

HGNC Alias Symbols

FBX11; UBR6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001190274.2
p.Q38*
c.112C>T
Surrounding Variants
1 paper
NM_001190274.2
p.Q38P
c.113A>C
1 paper
NM_001190274.2
p.Q37*
c.109C>T
1 paper
NM_001190274.2
p.P40L
c.119C>T
1 paper
NM_001190274.2
p.Q34R
c.101A>G
1 paper
NM_001190274.2
p.P33Q
c.98C>A
2 papers
NM_001190274.2
p.P32ins1
c.95_96insCCA
1 paper
NM_001190274.2
p.P31P
c.93G>A
1 paper
NM_001190274.2
p.P45_P46ins1
c.135_136insCCG
1 paper
NM_001190274.2
p.P35_P45ins3
c.105_134dup30
2 papers
NM_001190274.2
p.P40_P45del0
c.120_134del15
1 paper
NM_001190274.2
p.Q29fs
c.85_86fs
1 paper
NM_001190274.2
p.P28insFs
c.83_84insA
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