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Update GATA3 summary
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calvinlu3 committed Sep 29, 2023
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2 changes: 1 addition & 1 deletion core/src/test/resources/test_mutation_effect_summaries.tsv
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Expand Up @@ -30,7 +30,7 @@ BRCA1 T100* Likely Loss-of-function The mutation effect description for truncati
### Truncating mutations in TSG that not curated
PPP2R2A T100* Unknown
### Truncating mutation in both
GATA3 T100* Likely Loss-of-function The mutation effect description for N-terminal truncating mutations in GATA3 is: The GATA3 1_307trunc mutations occur in the N-terminal region of GATA3 and result in the loss of the zinc finger 2 domain and the C-terminus. GATA3 truncating mutations in this range have been identified in breast cancer (PMID: 27251275). Truncated N-terminal transcripts of GATA3 have been identified as inactivating as measured by reduced transcriptional regulation of genes compared to wildtype and truncated C-terminal transcripts of GATA3 (PMID: 27588951). Truncated N-terminal transcripts of GATA3 are suggested to negatively impact the dimerization of the protein (PMID: 27588951, 31107186, 25410484).
GATA3 T100* Likely Loss-of-function The mutation effect description for N-terminal truncating mutations in GATA3 is: GATA3 truncating mutations in the range of amino acids 1 to 307 occur in the N-terminal region of GATA3 and result in the loss of the zinc finger 2 domain and the C-terminus. GATA3 truncating mutations in this range have been identified in breast cancer (PMID: 27251275). Truncated N-terminal transcripts of GATA3 have been identified as inactivating as measured by reduced transcriptional regulation of genes compared to wildtype and truncated C-terminal transcripts of GATA3 (PMID: 27588951). Truncated N-terminal transcripts of GATA3 are suggested to negatively impact the dimerization of the protein (PMID: 27588951, 31107186, 25410484).
### Truncating mutation in neither
GATA1 T100* Unknown

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