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

1–12 of 31 variants

3 papers

NM_012164.4

p.T226R

c.677C>G

3 papers

NM_012164.4

p.A228G

c.683C>G

1 paper

NM_012164.4

p.L18F

c.52C>T

1 paper

NM_012164.4

p.T28S

c.82A>T

1 paper

NM_012164.4

p.T28S

c.83C>G

1 paper

NM_012164.4

p.L29M

c.85C>A

1 paper

NM_012164.4

p.D30Y

c.88G>T

1 paper

NM_012164.4

p.D30D

c.90T>C

1 paper

NM_012164.4

p.S36N

c.107G>A

1 paper

NM_012164.4

p.Y67delFs

c.199delA

1 paper

NM_012164.4

p.Y67fs

c.199_200fs

1 paper

NM_012164.4

p.Q75E

c.223C>G