Gene Variant Detail

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Gene MAP2K1
Variant F53_Q58del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 F53_Q58del results in the deletion of six amino acids in the Map2k1 protein from amino acids 53 to 58 (UniProt.org). F53_Q58del results in activation of Map2k1 as indicated by increased Erk and Mek phosphorylation in cell culture (PMID: 26566875, PMID: 29483135).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F53_Q58del

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Transcript NM_002755.4
gDNA chr15:g.66435103_66435120del18
cDNA c.157_174del18
Protein p.F53_Q58delFLTQKQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66435103_66435120del18 c.157_174del18 p.F53_Q58delFLTQKQ RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435170_66435187del18 c.158_175del18 p.G53_G58delGAGNGG RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435103_66435120del18 c.157_174del18 p.F53_Q58delFLTQKQ RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435103_66435120del18 c.157_174del18 p.F53_Q58delFLTQKQ RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435170_66435187del18 c.158_175del18 p.G53_G58delGAGNGG RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435170_66435187del18 c.158_175del18 p.G53_G58delGAGNGG RefSeq GRCh38/hg38
XM_017022413 chr15:g.66481871_66484998del3128 c.157_174del3128 p.Y53_R58delYMSPER RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435103_66435120del18 c.157_174del18 p.F53_Q58delFLTQKQ RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435103_66435120del18 c.157_174del18 p.F53_Q58delFLTQKQ RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435170_66435187del18 c.158_175del18 p.G53_G58delGAGNGG RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435170_66435187del18 c.158_175del18 p.G53_G58delGAGNGG RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66481871_66484998del3128 c.157_174del3128 p.Y53_R58delYMSPER RefSeq GRCh38/hg38
NM_002755 chr15:g.66435103_66435120del18 c.157_174del18 p.F53_Q58delFLTQKQ RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435170_66435187del18 c.158_175del18 p.G53_G58delGAGNGG RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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