SUFU gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

SUFU (SUFU negative regulator of hedgehog signaling)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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SUFU gene homepage

General information
Gene symbol	SUFU
Gene name	SUFU negative regulator of hedgehog signaling
Chromosome	10
Chromosomal band	q24.32
Imprinted	Unknown
Genomic reference	LRG_521
Transcript reference	NM_001178133.1, NM_016169.3
Associated with diseases	BCNS, FMNG, JBTS32, MDB
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	142
Unique public DNA variants reported	30
Individuals with public variants	153
Hidden variants	0
Date created	May 20, 2020
Date last updated	November 10, 2020
Version	SUFU:201110

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	16466
Entrez Gene	51684
PubMed articles	SUFU
OMIM - Gene	607035
OMIM - Diseases	BCNS (Basal cell nevus syndrome) FMNG (Meningioma, familial, susceptibility to) JBTS32 (Joubert syndrome 32) MDB (Medulloblastoma)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000209	10	suppressor of fused homolog (Drosophila), transcript variant 2	NM_001178133.1	NP_001171604.1	142
00000210	10	suppressor of fused homolog (Drosophila), transcript variant 1	NM_016169.3	NP_057253.2	142

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