Varaico: Literature-Extracted Genetic Variants

FBXW5

57 papers

RefSeq Summary

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

Pfam Domains

F-box-likeaa 6–52UCSCF-box-like

WD40aa 82–120UCSCWD domain, G-beta repeat

WD40aa 501–539UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 5

HGNC Alias Symbols

DKFZP434B205; MGC20962; Fbw5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

3 papers

NM_018998.4

p.F474I

c.1420T>A

2 papers

NM_018998.4

p.S411*

c.1232C>A

2 papers

NM_018998.4

p.R498H

c.1493G>A

1 paper

NM_018998.4

p.L21R

c.62T>G

1 paper

NM_018998.4

p.P23A

c.67C>G

1 paper

NM_018998.4

p.R47K

c.140G>A

1 paper

NM_018998.4

p.R58H

c.173G>A

1 paper

NM_018998.4

p.R89G

c.265C>G

1 paper

NM_018998.4

p.T92fs

c.274_275fs

1 paper

NM_018998.4

p.T92delFs

c.275_276delTG

1 paper

NM_018998.4

p.P135L

c.404C>T

1 paper

NM_018998.4

p.S151A

c.451T>G