Varaico: Literature-Extracted Genetic Variants

Gene:FBXO48
Variant:p.N10H

FBXO48

16 papers

Pfam Domains

F-box-likeaa 35–82UCSCF-box-like

Gene Aliases

HGNC Name

F-box protein 48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001024680.3
p.N10H
c.28A>C
Surrounding Variants
1 paper
NM_001024680.3
p.R7K
c.20G>A
1 paper
NM_001024680.3
p.E29fs
c.85_86fs
1 paper
NM_001024680.3
p.E36K
c.106G>A
1 paper
NM_001024680.3
p.I46fs
c.136_137fs
1 paper
NM_001024680.3
p.K77insFs
c.229_230ins13
1 paper
NM_001024680.3
p.K77fs
c.229_230fs
1 paper
NM_001024680.3
p.W118*
c.353G>A
1 paper
NM_001024680.3
p.W118*
c.354G>A
1 paper
NM_001024680.3
p.S124S
c.372C>T
1 paper
NM_001024680.3
p.C127R
c.379T>C
1 paper
NM_001024680.3
p.E134*
c.400G>T
2 papers
NM_001024680.3
p.D143Y
c.427G>T
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