Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TSC1 |
Variant | A944T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC1 A944T lies within the coiled-coil domain of the Tsc1 protein (UniProt.org). A944T has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC1 mutant TSC1 A944T |
Transcript | NM_000368.5 |
gDNA | chr9:g.132897329C>T |
cDNA | c.2830G>A |
Protein | p.A944T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011518979.3 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_006717271 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406593.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_000368 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_017015096 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_017015097 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_005272211 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_011518979 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406603.1 | chr9:g.132897311C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406592.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_000368.5 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_000368.4 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_006717271.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_017015096.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_005272211.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_011518979.2 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406604.1 | chr9:g.132897311C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406594.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406595.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
XM_017015097.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
NM_001406596.1 | chr9:g.132897329C>T | c.2830G>A | p.A944T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TSC1 A944T | unknown |