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 | TET2 |
Variant | V1718L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 V1718L lies within the catalytic domain of the Tet2 protein (PMID: 24315485). V1718L has been identified in sequencing studies (PMID: 24433485, PMID: 23781511, PMID: 36931918), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 V1718L |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105275662G>C |
cDNA | c.5152G>C |
Protein | p.V1718L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127208.2 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105275662G>C | c.5152G>C | p.V1718L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|