Gene Variant Detail

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Gene MAP2K1
Variant Q56_V60del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 Q56_V60del results in the deletion of five amino acids in the protein kinase domain of the Map2k1 protein from amino acids 56 to 60 (UniProt.org). Q56_V60del confers a gain of function to the Map2k1 protein as indicated by transformation capabilities and increased phosphorylation of Erk and S6k in culture (PMID: 26324360).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 Q56_V60del

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Transcript NM_002755.4
gDNA chr15:g.66435112_66435126del15
cDNA c.166_180del15
Protein p.Q56_V60delQKQKV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435112_66435126del15 c.166_180del15 p.Q56_V60delQKQKV RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
XM_017022413 chr15:g.66484990_66485004del15 c.166_180del15 p.P56_Q60delPERLQ RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66484990_66485004del15 c.166_180del15 p.P56_Q60delPERLQ RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435178_66435192del15 c.166_180del15 p.N56_V60delNGGVV RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries