Gene Variant Detail

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Gene TSC2
Variant V461M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 V461M does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V461M has been identified in sequencing studies (PMID: 28422758, PMID: 22895193, PMID: 33609721), 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 V461M

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Transcript NM_000548.5
gDNA chr16:g.2062991G>A
cDNA c.1381G>A
Protein p.V461M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001370404.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_005255531 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
NM_001077183 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
XM_017023618.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
XM_011522637 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_000548 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001114382 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522639 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2063003G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522640 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
XM_017023618 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_011522636 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_017023615 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2076153_2076155delGTCinsATG c.1381_1383delGTCinsATG p.V461M RefSeq GRCh38/hg38
XM_017023616 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2063003G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_005255529 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2062991G>A c.1381G>A p.V461M RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References