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 119
Unique public DNA variants reported 28
Individuals with public variants 125
Hidden variants 0
Date created May 20, 2020
Date last updated June 17, 2020
Version SUFU:200617

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


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000209 10 suppressor of fused homolog (Drosophila), transcript variant 2 NM_001178133.1 NP_001171604.1 119
00000210 10 suppressor of fused homolog (Drosophila), transcript variant 1 NM_016169.3 NP_057253.2 119


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