C97928Level 3

Gene Product Sequence Variation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A variation in the sequence of a specific gene product.

**Synonyms:** - AA_MUTATION - AA_MUTATION - Gene Product Sequence Variant - amino acid change - amino_acid_change

GET/api/v1/systems/nci_thesaurus/nodes/C97928

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Hierarchy Explorer

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C105906JAK2 Protein Variant

C107569PDGFRA Protein Variant

C107581FGFR2 Protein Variant

C117278IDH1 Protein Variant

C117279IDH2 Protein Variant

C118426Gene Product Variation Site

C126819KIT Protein Variant

C126823MPL Protein Variant

C126832SDHA Protein Variant

C128173PDGFRB Protein Variant

C128177MYD88 Protein Variant

C128903FGFR3 Protein Variant

C128920FLT3 Protein Variant

C129311H3 Protein Variant

C129836CALR Protein Variant

C131462MSH2 Protein Variant

C131465BLM Protein Variant

C131467BRCA1 Protein Variant

C131468BRCA2 Protein Variant

C133463ALK Protein Variant

C134489BTK Protein Variant

C136286MET Protein Variant

C146884TP53 Protein Variant

C146926CDKN2A Protein Variant

C146951GNAS Protein Variant

C146971RNF43 Protein Variant

C156903HBB Protein Variant

C157549ARHGAP45 Protein Variant

C158052PKLR Protein Variant

C158140PAX5 Protein Variant

C158145IKZF1 Protein Variant

C164169ABL1 Protein Variant

C164173APC Protein Variant

C164179B2M Protein Variant

C164259CCND3 Protein Variant

C164262CD74 Protein Variant

C164265CDC73 Protein Variant

C164271CSF1R Protein Variant

C164275CSF3R Protein Variant

C164279CTNNB1 Protein Variant

C164283DDR2 Protein Variant

C164287DICER1 Protein Variant

C164291DNMT3A Protein Variant

C164297DPYD Protein Variant

C165227Mature miRNA Variant

C165564ERCC2 Protein Variant

C165569PTEN Protein Variant

C165603FBXW7 Protein Variant

C165697FGFR1 Protein Variant

C165755FGFR4 Protein Variant

C165759HDAC1 Protein Variant

C165761HDAC2 Protein Variant

C165764HSP90B1 Protein Variant

C166161JAK3 Protein Variant

C166166MAP2K2 Protein Variant

C166384MTOR Protein Variant

C166412NCSTN Protein Variant

C167058NF1 Protein Variant

C167063NOTCH1 Protein Variant

C167121SRSF2 Protein Variant

C167123U2AF1 Protein Variant

C167128SF3B1 Protein Variant

C169003NT5C2 Protein Variant

C169007NTRK1 Protein Variant

C169015PHF6 Protein Variant

C169019PTCH1 Protein Variant

C169022PTPN11 Protein Variant

C169031RB1 Protein Variant

C169033SDHB Protein Variant

C169036SDHD Protein Variant

C169039SETD2 Protein Variant

C169044SMO Protein Variant

C169054STAG2 Protein Variant

C169058STAT5B Protein Variant

C169065TEK Protein Variant

C169068TLR8 Protein Variant

C169071TOP2A Protein Variant

C169090XPC Protein Variant

C169092FLT4 Protein Variant

C169094MED12 Protein Variant

C169096MUTYH Protein Variant

C171261Variant Amino Acid

C173450CHEK2 Protein Variant

C177784RAS Family Protein Variant

C178252MYOD1 Protein Variant

C178529PMS2 Protein Variant

C178530MLH1 Protein Variant

C178531MSH6 Protein Variant

C178532ATM Protein Variant

C178533STK11 Protein Variant

C178535PRSS1 Protein Variant

C178537EPCAM Protein Variant

C178538PALB2 Protein Variant

C180392CHD6 Protein Variant

C181343Predicted Amino Acid Change

C184297HSD3B1 Protein Variant

C185299Transcript Variant

C185453KLF1 Protein Variant

C185539HBA Protein Variant

C185899PRKCA Protein Variant

C186708KLF4 Protein Variant

C187408MAPK1 Protein Variant

C188672SIX1 Protein Variant

C188676MYCN Protein Variant

C188740EZH2 Protein Variant

C189660FOXL2 Protein Variant

C190710MYO1G Protein Variant

C192162ALDH2 Protein Variant

C199278ZEB2 Protein Variant

C201122XPO1 Protein Variant

C202962PRKD1 Protein Variant

C203334F5 Protein Variant

C214966UBA1 Protein Variant

C215068WNT9B Protein Variant

C219621SERPINA1 Protein Variant

C224971ESR1 Protein Variant

C98303AKT1 Protein Variant

C98307BRAF Protein Variant

C98356EGFR Protein Variant

C98358ERBB2 Protein Variant

C98460PIK3CA Protein Variant

Cross-system equivalences0

No cross-system equivalences mapped for this node.

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