Varaico: Literature-Extracted Genetic Variants

FBXL4

165 papers

RefSeq Summary

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase...

Pfam Domains

F-boxaa 280–322UCSCF-box domain

LRR_FBXL15aa 309–512UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 4

HGNC Alias Symbols

FBL4; FBL5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278716.2

p.D242H

c.724G>C

Surrounding Variants

1 paper

NM_001278716.2

p.I246fs

c.736_737fs

3 papers

NM_001278716.2

p.I246insFs

c.736dupA

1 paper

NM_001278716.2

p.I246T

c.737T>C

1 paper

NM_001278716.2

p.P232T

c.694C>A

1 paper

NM_001278716.2

p.E253D

c.759A>C

2 papers

NM_001278716.2

p.G258*

c.772G>T

1 paper

NM_001278716.2

p.G258R

c.772G>A

1 paper

NM_001278716.2

p.L225L

c.673C>T

4 papers

NM_001278716.2

p.D221V

c.662A>T

4 papers

NM_001278716.2

p.D221H

c.661G>C

1 paper

NM_001278716.2

p.V209_S211delFs

c.627_633del7

1 paper

NM_001278716.2

p.N210fs

c.628_629fs