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Gene | TSC2 |
Variant | R367Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | TSC2 R367Q lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). R367Q results in the expression of Mcp-1 similar to wild-type Tsc2 in cell culture (PMID: 16129702) and binds TSC1 similar to wild-type in an in vitro assay (PMID: 11741833), and therefore, is predicted to have no effect on Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 R367Q |
Transcript | NM_000548.5 |
gDNA | chr16:g.2060794G>A |
cDNA | c.1100G>A |
Protein | p.R367Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001077183.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_017023615.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_005255529.4 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522640.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_005255529 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_017023616.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001077183.3 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001406663.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522639 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522639.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522638.2 | chr16:g.2058835_2058836delAGinsCA | c.1099_1100delAGinsCA | p.R367Q | RefSeq | GRCh38/hg38 |
XM_017023615 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001077183 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001370405.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_017023617 | chr16:g.2058835_2058836delAGinsCA | c.1099_1100delAGinsCA | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_005255531.4 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001406698.1 | chr16:g.2076130_2076131delGCinsAA | c.1100_1101delGCinsAA | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522638 | chr16:g.2058835_2058836delAGinsCA | c.1099_1100delAGinsCA | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001363528.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_005255531 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001406665.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522637 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_017023616 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_024450413.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_021055.3 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
NM_001370404.1 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522637.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522639.3 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522640 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2060794G>A | c.1100G>A | p.R367Q | RefSeq | GRCh38/hg38 |
XM_017023617.1 | chr16:g.2058835_2058836delAGinsCA | c.1099_1100delAGinsCA | p.R367Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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