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Gene | EML4 |
Variant | E127* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | EML4 E127* results in a premature truncation of the Eml4 protein at amino acid 127 of 981 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E127* is predicted to lead to a loss of Eml4 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
EML4 mutant EML4 inact mut EML4 E127* |
Transcript | NM_019063.5 |
gDNA | chr2:g.42261161G>T |
cDNA | c.379G>T |
Protein | p.E127* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_019063.4 | chr2:g.42261161G>T | c.379G>T | p.E127* | RefSeq | GRCh38/hg38 |
XM_005264267.1 | chr2:g.42261161G>T | c.379G>T | p.E127* | RefSeq | GRCh38/hg38 |
XM_005264268.4 | chr2:g.42261161G>T | c.379G>T | p.E127* | RefSeq | GRCh38/hg38 |
NM_019063.5 | chr2:g.42261161G>T | c.379G>T | p.E127* | RefSeq | GRCh38/hg38 |
XM_005264268.3 | chr2:g.42261161G>T | c.379G>T | p.E127* | RefSeq | GRCh38/hg38 |
NM_001410776.1 | chr2:g.42261161G>T | c.379G>T | p.E127* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
EML4 E127* | loss of function - predicted |