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

2 papers

NM_001278716.2

p.G258*

c.772G>T

Surrounding Variants

1 paper

NM_001278716.2

p.G258R

c.772G>A

1 paper

NM_001278716.2

p.E253D

c.759A>C

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.I246fs

c.736_737fs

1 paper

NM_001278716.2

p.D242H

c.724G>C

1 paper

NM_001278716.2

p.N276fs

c.826_827fs

1 paper

NM_001278716.2

p.N276delFs

c.827delT

2 papers

NM_001278716.2

p.E273_N277del5

c.817_830del15

1 paper

NM_001278716.2

p.Y279C

c.836A>G

1 paper

NM_001278716.2

p.N276_D281delFs

c.826_842del17

1 paper

NM_001278716.2

p.P284fs

c.850_851fs