Varaico: Literature-Extracted Genetic Variants

Gene:FBXW5
Variant:p.S411*

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
2 papers
NM_018998.4
p.S411*
c.1232C>A
Surrounding Variants
1 paper
NM_018998.4
p.I406I
c.1218C>T
1 paper
NM_018998.4
p.R386Q
c.1157G>A
1 paper
NM_018998.4
p.T377M
c.1130C>T
1 paper
NM_018998.4
p.W424L
c.1271G>T
1 paper
NM_018998.4
p.A428V
c.1283C>T
1 paper
NM_018998.4
p.D432N
c.1294G>A
1 paper
NM_018998.4
p.I443V
c.1327A>G
1 paper
NM_018998.4
p.M453T
c.1358T>C
1 paper
NM_018998.4
p.V456M
c.1366G>A
1 paper
NM_018998.4
p.V456A
c.1367T>C
1 paper
NM_018998.4
p.R457T
c.1370G>C
1 paper
NM_018998.4
p.R458W
c.1372C>T
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