Varaico: Literature-Extracted Genetic Variants

Gene:FBXW10
Variant:p.R638Q

FBXW10

58 papers

RefSeq Summary

Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

WD40aa 444–481UCSCWD domain, G-beta repeat
WD40aa 485–521UCSCWD domain, G-beta repeat
WD40aa 564–600UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 10

HGNC Previous Symbol

C17orf1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001267585.2
p.R638Q
c.1913G>A
Surrounding Variants
1 paper
NM_001267585.2
p.R638*
c.1912C>T
2 papers
NM_001267585.2
p.A633T
c.1897G>A
1 paper
NM_001267585.2
p.G667D
c.2000G>A
4 papers
NM_001267585.2
p.R607C
c.1819C>T
1 paper
NM_001267585.2
p.Q682K
c.2044C>A
1 paper
NM_001267585.2
p.V692M
c.2074G>A
1 paper
NM_001267585.2
p.T695M
c.2084C>T
1 paper
NM_001267585.2
p.K703fs
c.2107_2108fs
1 paper
NM_001267585.2
p.V558M
c.1672G>A
2 papers
NM_001267585.2
p.R532S
c.1596A>C
1 paper
NM_001267585.2
p.R532S
c.1596A>T
1 paper
NM_001267585.2
p.V509I
c.1525G>A
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