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TSC2

Basic information

Official gene symbol
TSC complex subunit 2
Conventional gene symbol
PPP1R160, TSC4
Classification
Tumor suppressor gene
Official gene ID
7249(Refseq)
7249 (KEGG)
Transcript ID
NM_000548
Functional classification
Tumor growth and progression
Signaling pathway
PI3K/Akt/mTOR
Chromosomal location
16p13.3 (chr16:2098617..2138611)
Protein length
1,807

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
chr16:2104300 G T 5 / 42 p.E114* c.340G>T   Tier2 1 / 143
chr16:2106243 G T 7 / 42 p.E216* c.646G>T   Tier2 1 / 143
chr16:2106766 G A 8 / 42 p.W257* c.770G>A   Tier2 1 / 143
chr16:2112501 TCCTC T 13 / 42 p.L423fs c.1267_1270delCTCC   Tier2 1 / 143
chr16:2112991 C CGT 14 / 42 p.R462fs c.1382_1383dupTG   Tier2 1 / 143
chr16:2115592 G T 16 / 42 p.E558* c.1672G>T   Tier2 1 / 143
chr16:2121907 TC T 19 / 42 p.R691fs c.2071delC   Tier2 1 / 143
chr16:2121921 C T 19 / 42 p.Q695* c.2083C>T   Tier2 1 / 143
chr16:2124270 T TA 22 / 42 p.S809fs c.2425_2426insA   Tier2 1 / 143
chr16:2126142 C T 24 / 42 p.R905W c.2713C>T COSV54765887 Tier2 1 / 143
chr16:2134352 C T 34 / 42 p.Q1377* c.4129C>T COSV99032332 Tier2 1 / 143
chr16:2136199 CA C 37 / 42 p.S1557fs c.4669delA   Tier2 1 / 143