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PTEN E43fs - Gene Variant Detail

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Gene PTEN
Variant E43fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN E43fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 43 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E43fs has not been characterized, however, due to the effects of other truncation mutations downstream of E43 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN E43fs

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Transcript NM_000314.8
gDNA chr10:g.(87894071_87894072)
cDNA c.(127_126)
Protein p.E43fs
Source Database RefSeq
Genome Build GRCh38/hg38

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