Varaico: Literature-Extracted Genetic Variants

Gene:FBXO11
Variant:p.S169_Y170insAGC

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
3 papers
NM_001190274.2
p.S169_Y170insAGC
c.505_509ins9
Surrounding Variants
2 papers
NM_001190274.2
p.S169fs
c.505_506fs
1 paper
NM_001190274.2
p.S169F
c.506C>T
2 papers
NM_001190274.2
p.F168del1
c.502_503delGAA
NM_025133.4
p.F84del1
c.250_251delGAA
2 papers
NM_001190274.2
p.S169delFs
c.506_507delAG
5 papers
NM_001190274.2
p.I167_S169del3
c.499_506del9
1 paper
NM_001190274.2
p.V164_S169del6
c.490_506del18
1 paper
NM_001190274.2
p.V164D
c.491T>A
1 paper
NM_001190274.2
p.V163M
c.487G>A
1 paper
NM_001190274.2
p.D175G
c.524A>G
1 paper
NM_001190274.2
p.D161G
c.482A>G
2 papers
NM_001190274.2
p.D161Y
c.481G>T
1 paper
NM_001190274.2
p.A180T
c.538G>A
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