Varaico: Literature-Extracted Genetic Variants

FBXL2

27 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin pr...

Pfam Domains

F-boxaa 13–54UCSCF-box domain

LRR_FBXL15aa 100–258UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_FBXL15aa 257–388UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 2

HGNC Alias Symbols

FBL2; FBL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012157.5

p.D301N

c.901G>A

Surrounding Variants

1 paper

NM_012157.5

p.S302R

c.904A>C

1 paper

NM_012157.5

p.S302R

c.906C>A

1 paper

NM_012157.5

p.S302R

c.906C>G

3 papers

NM_012157.5

p.V226M

c.676G>A

1 paper

NM_012157.5

p.E224K

c.670G>A

1 paper

NM_012157.5

p.D197N

c.589G>A

1 paper

NM_012157.5

p.V141M

c.421G>A

1 paper

NM_012157.5

p.R344W

c.1030C>T

1 paper

NM_012157.5

p.D136G

c.407A>G

1 paper

NM_012157.5

p.C351G

c.1051T>G

1 paper

NM_012157.5

p.F128Y

c.383T>A

1 paper

NM_012157.5

p.F128I

c.382T>A