Varaico: Literature-Extracted Genetic Variants

Gene:FBXW5
Variant:p.E228K

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.E228K
c.682G>A
Surrounding Variants
1 paper
NM_018998.4
p.D226E
c.678T>G
1 paper
NM_018998.4
p.D226E
c.678T>A
1 paper
NM_018998.4
p.N233I
c.698A>T
1 paper
NM_018998.4
p.V234M
c.700G>A
1 paper
NM_018998.4
p.R237W
c.709C>T
1 paper
NM_018998.4
p.T251M
c.752C>T
1 paper
NM_018998.4
p.D256N
c.766G>A
1 paper
NM_018998.4
p.E268E
c.804A>G
1 paper
NM_018998.4
p.G210R
c.628G>C
1 paper
NM_018998.4
p.G210R
c.628G>A
1 paper
NM_018998.4
p.I209V
c.625A>G
1 paper
NM_018998.4
p.R278C
c.832C>T
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