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.E134A

c.401A>C

Surrounding Variants

1 paper

NM_012164.4

p.E134Q

c.400G>C

1 paper

NM_012164.4

p.A116A

c.348T>A

1 paper

NM_012164.4

p.A116S

c.346G>T

1 paper

NM_012164.4

p.L105*

c.314T>A

1 paper

NM_012164.4

p.K85K

c.255A>G

1 paper

NM_012164.4

p.V83A

c.248T>C

1 paper

NM_012164.4

p.V83I

c.247G>A

1 paper

NM_012164.4

p.L82L

c.246C>G

1 paper

NM_012164.4

p.Q75E

c.223C>G

1 paper

NM_012164.4

p.Y67fs

c.199_200fs

1 paper

NM_012164.4

p.Y67delFs

c.199delA

1 paper

NM_012164.4

p.S36N

c.107G>A