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TGFBR2
Basic information
- Official gene symbol
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transforming growth factor beta receptor 2
- Conventional gene symbol
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AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TBR-ii, TBRII, TGFR-2, TGFbeta-RII
- Classification
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Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Tumor growth and progression
- Signaling pathway
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TGF-B
- Chromosomal location
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3p24.1 (chr3:30648376..30733091)
- Protein length
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567
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 |
|---|---|---|---|---|---|---|---|---|
| chr3:30648460 | C | T | 1 / 7 | p.Q29* | c.85C>T | COSV99847016 | Tier2 | 1 / 93 |
| chr3:30686289 | C | T | 2 / 7 | p.Q49* | c.145C>T | Tier2 | 1 / 93 | |
| chr3:30691792 | GAC | G | 3 / 7 | p.T99fs | c.296_297delCA | Tier2 | 1 / 93 | |
| chr3:30713391 | CAG | C | 4 / 7 | p.E240fs | c.719_720delAG | Tier2 | 1 / 93 | |
| chr3:30713559 | C | G | 4 / 7 | p.S295* | c.884C>G | COSV55448334 | Tier2 | 1 / 93 |
| chr3:30715602 | AACTGCAAGATACATGGCTCCAG | A | 5 / 7 | p.T421fs | c.1262_1283delCTGCAAGATACATGGCTCCAGA | Tier2 | 1 / 93 | |
| chr3:30715657 | GTT | G | 5 / 7 | p.V439fs | c.1316_1317delTT | Tier2 | 1 / 93 | |
| chr3:30729962 | C | T | 6 / 7 | p.R495* | c.1483C>T | COSV55443391 | Tier2 | 1 / 93 |
| chr3:30729968 | C | T | 6 / 7 | p.R497* | c.1489C>T | COSV55443474 | Tier2 | 1 / 93 |
| chr3:30732937 | T | TGACTGAGTGCTGG | 7 / 7 | p.H523fs | c.1554_1566dupTGAGTGCTGGGAC | Tier2 | 1 / 93 | |
| chr3:30732973 | TCA | T | 7 / 7 | p.T530fs | c.1589_1590delCA | COSV55451040 | Tier2 | 1 / 93 |
| chr3:30732981 | C | T | 7 / 7 | p.Q532* | c.1594C>T | COSV55449236 | Tier2 | 1 / 93 |