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

11 papers

NM_001278716.2

p.R98*

c.292C>T

Surrounding Variants

1 paper

NM_001278716.2

p.G101R

c.301G>C

1 paper

NM_001278716.2

p.G101R

c.301G>A

3 papers

NM_001278716.2

p.F91_Q93delFs

c.273_277del5

1 paper

NM_001278716.2

p.F91fs

c.271_272fs

2 papers

NM_001278716.2

p.F91fs

c.271_272fs

4 papers

NM_001278716.2

p.Q106*

c.316C>T

1 paper

NM_001278716.2

p.S88T

c.262T>A

1 paper

NM_001278716.2

p.S109fs

c.325_326fs

1 paper

NM_001278716.2

p.S109delFs

c.326delC

1 paper

NM_001278716.2

p.G80D

c.239G>A

1 paper

NM_001278716.2

p.T117T

c.351G>A

1 paper

NM_001278716.2

p.M75I

c.225G>T