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

Selected Variant

1 paper

NM_018998.4

p.P541L

c.1622C>T

Surrounding Variants

1 paper

NM_018998.4

p.R539C

c.1615C>T

1 paper

NM_018998.4

p.Q548*

c.1642C>T

2 papers

NM_018998.4

p.R498H

c.1493G>A

1 paper

NM_018998.4

p.H492H

c.1476C>T

1 paper

NM_018998.4

p.H492Q

c.1476C>G

1 paper

NM_018998.4

p.H492Q

c.1476C>A

1 paper

NM_018998.4

p.L477P

c.1430T>C

3 papers

NM_018998.4

p.F474I

c.1420T>A

1 paper

NM_018998.4

p.R458W

c.1372C>T

1 paper

NM_018998.4

p.R457T

c.1370G>C

1 paper

NM_018998.4

p.V456A

c.1367T>C

1 paper

NM_018998.4

p.V456M

c.1366G>A