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VHL

Basic information

Official gene symbol
von Hippel-Lindau tumor suppressor
Conventional gene symbol
HRCA1, RCA1, VHL1, pVHL
Classification
Tumor suppressor gene
Official gene ID
7428(Refseq)
7428 (KEGG)
Transcript ID
NM_000551
Functional classification
Tumor growth and progression
Signaling pathway
PI3K/Akt/mTOR
Chromosomal location
3p25.3 (chr3:10183532..10191649)
Protein length
213

Chromosome ideogram

Pathway map

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr3:10183706 CCG C 1 / 3 p.R60fs c.178_179delCG COSV56565369 Tier2 1 / 34
chr3:10183785 T C 1 / 3 p.L85P c.254T>C COSV56542730 Tier2 1 / 34
chr3:10183791 TATGGCTCAACTTCG T 1 / 3 p.W88fs c.262_275delTGGCTCAACTTCGA   Tier2 1 / 34
chr3:10183817 C T 1 / 3 p.Q96* c.286C>T COSV56546894 Tier2 1 / 34
chr3:10183853 CG C 1 / 3 p.R108fs c.323delG   Tier2 1 / 34
chr3:10188208 G C 2 / 3 p.W117C c.351G>C COSV56550455 Tier2 1 / 34
chr3:10188300 TTGCCAATATCACAC T 2 / 3 p.N150fs c.449_462delATATCACACTGCCA   Tier2 1 / 34
chr3:10188303 CCAATATCA C 2 / 3 p.N150fs c.449_456delATATCACA   Tier2 1 / 34
chr3:10191479 C G 3 / 3 p.L158V c.472C>G COSV56544074 Tier2 2 / 34
chr3:10191524 G T 3 / 3 p.E173* c.517G>T COSV56551494 Tier2 1 / 34