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Gene | TET2 |
Variant | N1387A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 N1387A lies within the catalytic domain of the Tet2 protein (PMID: 24315485). N1387A is predicted to confer a loss of function to the Tet2 protein as demonstrated by decreased Tet2 enzymatic activity in an in vitro assay (PMID: 24315485). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 N1387A |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105269724_105269725delAAinsGC |
cDNA | c.4159_4160delAAinsGC |
Protein | p.N1387A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006714242 | chr4:g.105272840_105272841delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_006714242.3 | chr4:g.105272840_105272841delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.105272840_105272841delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105269724_105269725delAAinsGC | c.4159_4160delAAinsGC | p.N1387A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TET2 N1387A | loss of function - predicted |