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.Q54*

c.160C>T

Surrounding Variants

1 paper

NM_001190274.2

p.Q54K

c.160C>A

1 paper

NM_001190274.2

p.Q56R

c.167A>G

1 paper

NM_001190274.2

p.Q51*

c.151C>T

3 papers

NM_001190274.2

p.P57ins1

c.169_170insAGC

2 papers

NM_001190274.2

p.Q56_P57ins0

c.167_169dupAGC

1 paper

NM_001190274.2

p.Q55_P57ins1

c.164_169dup6

1 paper

NM_001190274.2

p.Q54_P57ins1

c.161_169dup9

5 papers

NM_001190274.2

p.Q56_P57del1

c.167_169delGCT

1 paper

NM_001190274.2

p.Q55_P57del0

c.164_169del6

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