Varaico: Literature-Extracted Genetic Variants

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.P31P

c.93G>A

Surrounding Variants

2 papers

NM_001190274.2

p.P32ins1

c.95_96insCCA

1 paper

NM_001190274.2

p.P33Q

c.98C>A

1 paper

NM_001190274.2

p.Q29fs

c.85_86fs

1 paper

NM_001190274.2

p.Q34R

c.101A>G

1 paper

NM_001190274.2

p.P28insFs

c.83_84insA

1 paper

NM_001190274.2

p.P27insFs

c.80_81ins14

1 paper

NM_001190274.2

p.Q37*

c.109C>T

1 paper

NM_001190274.2

p.Q26L

c.77A>T

1 paper

NM_001190274.2

p.Q26P

c.77A>C

1 paper

NM_001190274.2

p.Q26*

c.76C>T

2 papers

NM_001190274.2

p.Q38*

c.112C>T

1 paper

NM_001190274.2

p.Q38P

c.113A>C