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

1–12 of 23 variants

3 papers

NM_012157.5

p.V226M

c.676G>A

2 papers

NM_012157.5

p.C420S

c.1258T>A

2 papers

NM_012157.5

p.C420S

c.1259G>C

1 paper

NM_012157.5

p.W42L

c.125G>T

1 paper

NM_012157.5

p.G66A

c.197G>C

1 paper

NM_012157.5

p.N71delFs

c.212delA

1 paper

NM_012157.5

p.S73L

c.218C>T

1 paper

NM_012157.5

p.R75*

c.223C>T

1 paper

NM_012157.5

p.I117M

c.351C>G

1 paper

NM_012157.5

p.F128I

c.382T>A

1 paper

NM_012157.5

p.F128Y

c.383T>A

1 paper

NM_012157.5

p.D136G

c.407A>G