Varaico: Literature-Extracted Genetic Variants

FBXW2

29 papers

RefSeq Summary

F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-med...

Pfam Domains

F-boxaa 57–96UCSCF-box domain

WD40aa 129–176UCSCWD domain, G-beta repeat

WD40aa 139–174UCSCWD domain, G-beta repeat

WD40aa 178–212UCSCWD domain, G-beta repeat

WD40aa 216–254UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 2

HGNC Alias Symbols

FBW2; Md6; Fwd2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012164.4

p.R324G

c.970A>G

Surrounding Variants

1 paper

NM_012164.4

p.L284F

c.850C>T

1 paper

NM_012164.4

p.E269K

c.805G>A

1 paper

NM_012164.4

p.G266R

c.796G>C

1 paper

NM_012164.4

p.G266R

c.796G>A

1 paper

NM_012164.4

p.G258W

c.772G>T

1 paper

NM_012164.4

p.R407W

c.1219A>T

1 paper

NM_012164.4

p.G433C

c.1297G>T

1 paper

NM_012164.4

p.V229Splc

c.685+2T>G

3 papers

NM_012164.4

p.A228G

c.683C>G

3 papers

NM_012164.4

p.T226R

c.677C>G

1 paper

NM_012164.4

p.D205N

c.613G>A