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

1–12 of 563 variants

9 papers

NM_001190274.2

p.Q50P

c.149A>C

5 papers

NM_001190274.2

p.Q56_P57del1

c.167_169delGCT

5 papers

NM_001190274.2

p.I167_S169del3

c.499_506del9

5 papers

NM_001190274.2

p.D910G

c.2729A>G

5 papers

NM_001190274.2

p.Y913*

c.2739T>G

5 papers

NM_001190274.2

p.Y913*

c.2739T>A

5 papers

NM_001190274.2

p.Y913delFs

c.2738_2739delAT

4 papers

NM_001190274.2

p.P49Q

c.146C>A

4 papers

NM_001190274.2

p.Y692N

c.2074T>A

4 papers

NM_001190274.2

p.K715N

c.2145G>T

4 papers

NM_001190274.2

p.K715N

c.2145G>C

4 papers

NM_001190274.2

p.I864_C865delFs

c.2592_2593delAT