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Gene | MAP2K1 |
Variant | A106_I107del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 A106_I107del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 106 to 107 (UniProt.org). A106_I107del results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 A106_I107del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436770_66436775delGCAATC |
cDNA | c.316_321delGCAATC |
Protein | p.A106_I107delAI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66436770_66436775delGCAATC | c.316_321delGCAATC | p.A106_I107delAI | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485141_66485146delATGCGG | c.317_322delATGCGG | p.D106_A107delDA | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485141_66485146delATGCGG | c.317_322delATGCGG | p.D106_A107delDA | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436770_66436775delGCAATC | c.316_321delGCAATC | p.A106_I107delAI | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66436836_66436841delGGCTTC | c.316_321delGGCTTC | p.G106_F107delGF | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66436836_66436841delGGCTTC | c.316_321delGGCTTC | p.G106_F107delGF | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66436836_66436841delGGCTTC | c.316_321delGGCTTC | p.G106_F107delGF | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66436836_66436841delGGCTTC | c.316_321delGGCTTC | p.G106_F107delGF | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66436836_66436841delGGCTTC | c.316_321delGGCTTC | p.G106_F107delGF | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436770_66436775delGCAATC | c.316_321delGCAATC | p.A106_I107delAI | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436770_66436775delGCAATC | c.316_321delGCAATC | p.A106_I107delAI | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436770_66436775delGCAATC | c.316_321delGCAATC | p.A106_I107delAI | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436770_66436775delGCAATC | c.316_321delGCAATC | p.A106_I107delAI | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66436836_66436841delGGCTTC | c.316_321delGGCTTC | p.G106_F107delGF | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 A106_I107del | gain of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor |