Varaico: Literature-Extracted Genetic Variants

Gene:FBXO11
Variant:p.Q51*

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
1 paper
NM_001190274.2
p.Q51*
c.151C>T
Surrounding Variants
9 papers
NM_001190274.2
p.Q50P
c.149A>C
1 paper
NM_001190274.2
p.Q50ins1
c.148_149insCGC
1 paper
NM_001190274.2
p.P49Fs
c.146delinsCCFs
1 paper
NM_001190274.2
p.P49ins1
c.146_147insGCA
4 papers
NM_001190274.2
p.P49Q
c.146C>A
1 paper
NM_001190274.2
p.P45_P48del0
c.135_143del9
1 paper
NM_001190274.2
p.P48L
c.143C>T
1 paper
NM_001190274.2
p.Q54*
c.160C>T
1 paper
NM_001190274.2
p.Q54K
c.160C>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
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