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Gene | TSC2 |
Variant | V550G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 V550G does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V550G has been identified in sequencing studies (J Thorac Oncol. Vol 13, Issue 10, S512-S513), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 V550G |
Transcript | NM_000548.5 |
gDNA | chr16:g.2065568T>G |
cDNA | c.1649T>G |
Protein | p.V550G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522636.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_005255531 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001370405.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522637 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_017023615.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522639.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001077183.3 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406693.1 | chr16:g.2079187T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_005255529.4 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_017023615 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406698.1 | chr16:g.2079655T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_005255529 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406692.1 | chr16:g.2079187T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_005255531.4 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522639 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406665.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406677.1 | chr16:g.2065625T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522640.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522640 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522637.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522639.3 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001077183 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001077183.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406694.1 | chr16:g.2079187T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406690.1 | chr16:g.2079187T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_017023616 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_024450413.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001406663.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_017023616.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001363528.2 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_001370404.1 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
NM_021055.3 | chr16:g.2065568T>G | c.1649T>G | p.V550G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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