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.E208fs

c.622_623fs

Surrounding Variants

3 papers

NM_001278716.2

p.R206_L207insFs

c.618_621dup4

1 paper

NM_001278716.2

p.R206L

c.617G>T

1 paper

NM_001278716.2

p.R206insFs

c.617_618insT

1 paper

NM_001278716.2

p.N210fs

c.628_629fs

8 papers

NM_001278716.2

p.R206*

c.616C>T

1 paper

NM_001278716.2

p.R206fs

c.616_617fs

6 papers

NM_001278716.2

p.I205T

c.614T>C

1 paper

NM_001278716.2

p.V209_S211delFs

c.627_633del7

2 papers

NM_001278716.2

p.T202R

c.605C>G

4 papers

NM_001278716.2

p.D221H

c.661G>C

4 papers

NM_001278716.2

p.D221V

c.662A>T

1 paper

NM_001278716.2

p.L225L

c.673C>T