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

5 papers

NM_001190274.2

p.D910G

c.2729A>G

NM_025133.4

p.D826G

c.2477A>G

Surrounding Variants

1 paper

NM_025133.4

p.D826V

c.2477A>T

NM_001190274.2

p.D910V

c.2729A>T

1 paper

NM_001190274.2

p.T911insFs

c.2731_2732ins4

1 paper

NM_001190274.2

p.T911fs

c.2731_2732fs

2 papers

NM_001190274.2

p.H907Q

c.2721T>G

2 papers

NM_001190274.2

p.H907Q

c.2721T>A

1 paper

NM_001190274.2

p.Y913C

c.2738A>G

5 papers

NM_001190274.2

p.Y913*

c.2739T>G

5 papers

NM_001190274.2

p.Y913*

c.2739T>A

1 paper

NM_001190274.2

p.T911_Y913delFs

c.2732_2738del7

1 paper

NM_001190274.2

p.D914insFs

c.2740_2741insT

5 papers

NM_001190274.2

p.Y913delFs

c.2738_2739delAT

1 paper

NM_001190274.2

p.S915fs

c.2743_2744fs