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

18 papers

NM_001278716.2

p.R482W

c.1444C>T

Surrounding Variants

3 papers

NM_001278716.2

p.L481P

c.1442T>C

1 paper

NM_001278716.2

p.K480Q

c.1438A>C

1 paper

NM_001278716.2

p.A476T

c.1426G>A

3 papers

NM_001278716.2

p.A471T

c.1411G>A

1 paper

NM_001278716.2

p.S502_G503insFs

c.1506_1507insCT

1 paper

NM_001278716.2

p.G503fs

c.1507_1508fs

3 papers

NM_001278716.2

p.C504R

c.1510T>C

1 paper

NM_001278716.2

p.P505L

c.1514C>T

1 paper

NM_001278716.2

p.G513V

c.1538G>T

2 papers

NM_001278716.2

p.W514G

c.1540T>G

1 paper

NM_001278716.2

p.L518delFs

c.1552_1553delAG

10 papers

NM_001278716.2

p.Q519*

c.1555C>T