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

5 papers

NM_001278716.2

p.R36*

c.106A>T

Surrounding Variants

2 papers

NM_001278716.2

p.H35Q

c.105T>G

2 papers

NM_001278716.2

p.H35Q

c.105T>A

1 paper

NM_001278716.2

p.R28I

c.83G>T

1 paper

NM_001278716.2

p.S45P

c.133T>C

2 papers

NM_001278716.2

p.N48fs

c.142_143fs

5 papers

NM_001278716.2

p.L47delFs

c.141delG

1 paper

NM_001278716.2

p.N48fs

c.142_143fs

2 papers

NM_001278716.2

p.R22P

c.65G>C

1 paper

NM_001278716.2

p.E50K

c.148G>A

9 papers

NM_001278716.2

p.R22*

c.64C>T

1 paper

NM_001278716.2

p.R21H

c.62G>A

1 paper

NM_001278716.2

p.R21C

c.61C>T