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.D717E

c.2151T>G

Surrounding Variants

1 paper

NM_001190274.2

p.S718G

c.2152A>G

1 paper

NM_001190274.2

p.D717Y

c.2149G>T

1 paper

NM_001190274.2

p.N719H

c.2155A>C

5 papers

NM_001190274.2

p.K715N

c.2145G>T

NM_025133.4

p.K631N

c.1893G>T

5 papers

NM_001190274.2

p.K715N

c.2145G>C

NM_025133.4

p.K631N

c.1893G>C

1 paper

NM_001190274.2

p.K715R

c.2144A>G

1 paper

NM_001190274.2

p.K715T

c.2144A>C

2 papers

NM_001190274.2

p.K715E

c.2143A>G

1 paper

NM_025133.4

p.K631Q

c.1891A>C

1 paper

NM_001190274.2

p.I714N

c.2141T>A

1 paper

NM_001190274.2

p.I714L

c.2140A>C

1 paper

NM_001190274.2

p.L722delFs

c.2165delA