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.S694F

c.2081C>T

Surrounding Variants

1 paper

NM_001190274.2

p.Y692F

c.2075A>T

1 paper

NM_001190274.2

p.Y692H

c.2074T>C

4 papers

NM_001190274.2

p.Y692N

c.2074T>A

1 paper

NM_001190274.2

p.G688E

c.2063G>A

2 papers

NM_001190274.2

p.G687D

c.2060G>A

1 paper

NM_001190274.2

p.G687C

c.2059G>T

3 papers

NM_025133.4

p.G600E

c.1799G>A

NM_001190274.2

p.G684E

c.2051G>A

1 paper

NM_001190274.2

p.G684*

c.2050G>T

1 paper

NM_001190274.2

p.N679_K680delFs

c.2037_2038delTG

2 papers

NM_025133.4

p.N595S

c.1784A>G

NM_001190274.2

p.N679S

c.2036A>G

1 paper

NM_001190274.2

p.R677T

c.2030G>C

1 paper

NM_001190274.2

p.P674T

c.2020C>A