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

2 papers

NM_001190274.2

p.E703K

c.2107G>A

Surrounding Variants

1 paper

NM_001190274.2

p.E703*

c.2107G>T

1 paper

NM_001190274.2

p.I704R

c.2111T>G

1 paper

NM_001190274.2

p.I704K

c.2111T>A

1 paper

NM_001190274.2

p.E700fs

c.2098_2099fs

1 paper

NM_001190274.2

p.D706V

c.2117A>T

1 paper

NM_001190274.2

p.I699T

c.2096T>C

1 paper

NM_001190274.2

p.I699K

c.2096T>A

1 paper

NM_001190274.2

p.N707fs

c.2119_2120fs

1 paper

NM_001190274.2

p.G697D

c.2090G>A

2 papers

NM_025133.4

p.M625V

c.1873A>G

NM_001190274.2

p.M709V

c.2125A>G

1 paper

NM_001190274.2

p.G695insFs

c.2085dupT

1 paper

NM_001190274.2

p.A710D

c.2129C>A